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+ Genes 1

Genes:
CCT5,

+ Genes associated with diseases 1

Genes at Omim

CCT5,
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3)

Genes at Clinical Genomics Database

CCT5,
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia

Genes at HGMD

Summary

Number of Variants: 68
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

CCT5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View le-full_variant_table 5 rs2578618
dbSNP Clinvar 		10250443 10000.0 T C off_target 1/1 138 START_GAINED LOW 0.68530 0.68530 0.28195 0.00 None None None None None None CCT5|0.365250197|23.05%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View le-full_variant_table 17 rs117278702
dbSNP Clinvar 		38020421 1186.0 G A off_target 0/1 99 START_GAINED LOW 0.03215 0.03215 0.02518 None None None None None None IKZF3|0.378393147|22.16%
View le-full_variant_table 16 rs11075646
dbSNP Clinvar 		66969176 122.0 C G low_coverage;off_target 0/1 8 START_GAINED LOW 0.13319 0.13320 None None None None None None CES2|0.005670891|85.01%
View le-full_variant_table 16 rs12928825
dbSNP Clinvar 		20085030 1388.0 G A off_target 0/1 93 START_GAINED LOW 0.42991 0.42990 None None None None None None GPR139|0.279358296|29.15%
View le-full_variant_table 13 rs1441043
dbSNP Clinvar 		111367650 227.0 A G low_coverage;off_target 0/1 17 START_GAINED LOW 0.69209 0.69210 None None None None None None ING1|0.083712239|54.5%
View le-full_variant_table 12 rs11178998
dbSNP Clinvar 		72332715 850.0 A G off_target 0/1 100 START_GAINED LOW 0.08586 0.08586 0.05215 None None None None None None TPH2|0.532472095|14.47%
View le-full_variant_table 12 rs1345004
dbSNP Clinvar 		8765447 2774.0 T C off_target 1/1 96 START_GAINED LOW 0.99541 0.99540 0.00504 None None None None None None AICDA|0.345530644|24.45%
View le-full_variant_table 11 rs883245
dbSNP Clinvar 		119217311 1836.0 G A off_target 1/1 62 START_GAINED LOW 0.58387 0.58390 None None None None None None C1QTNF5|0.125545582|46.55%,MFRP|0.053195246|61.74%
View le-full_variant_table 11 rs149876307
dbSNP Clinvar 		65837928 838.0 C G off_target 0/1 102 START_GAINED LOW 0.01258 0.01258 None None None None None None PACS1|0.188403172|38.02%
View le-full_variant_table 11 rs947847
dbSNP Clinvar 		65793942 358.0 A G off_target 0/1 32 START_GAINED LOW 0.33746 0.33750 None None None None None None CATSPER1|0.002272512|90.24%
View le-full_variant_table 11 rs3740615
dbSNP Clinvar 		22647366 10000.0 G A off_target 1/1 122 START_GAINED LOW 0.11382 0.11380 0.14663 None None None None None None FANCF|0.011173944|79.88%,GAS2|0.651737613|10.04%
View le-full_variant_table 10 rs4987106
dbSNP Clinvar 		45869713 1597.0 C G off_target 0/1 159 START_GAINED LOW 0.17911 0.17910 0.12382 None None None None None None ALOX5|0.283681032|28.83%
View le-full_variant_table 10 rs7919803
dbSNP Clinvar 		27444328 1477.0 C A PASS 0/1 129 START_GAINED LOW 0.50539 0.50540 0.16771 None None None None None None MASTL|0.148437905|43.23%
View le-full_variant_table 10 rs3824593
dbSNP Clinvar 		27444303 1209.0 G A PASS 0/1 99 START_GAINED LOW 0.39717 0.39720 None None None None None None MASTL|0.148437905|43.23%
View le-full_variant_table 8 rs12550009
dbSNP Clinvar 		15397820 464.0 C T off_target 0/1 40 START_GAINED LOW 0.22005 0.22000 None None None None None None TUSC3|0.220184482|34.41%
View le-full_variant_table 8 rs1383942
dbSNP Clinvar 		13357587 2716.0 G A off_target 1/1 90 START_GAINED LOW 0.74161 0.74160 0.16293 None None None None None None DLC1|0.140256235|44.36%
View le-full_variant_table 6 rs2072911
dbSNP Clinvar 		146056801 313.0 G A off_target 0/1 24 START_GAINED LOW 0.54293 0.54290 None None None None None None EPM2A|0.182290877|38.74%
View le-full_variant_table 4 rs1398007
dbSNP Clinvar 		187112832 188.0 C T off_target 0/1 28 START_GAINED LOW 0.35583 0.35580 None None None None None None CYP4V2|0.027940176|70.46%
View le-full_variant_table 2 rs2289917
dbSNP Clinvar 		209010891 1416.0 G A off_target 0/1 118 START_GAINED LOW 0.22724 0.22720 0.31770 None None None None None None CRYGB|0.135617372|45.02%
View le-full_variant_table 2 rs11554586
dbSNP Clinvar 		127864546 1752.0 G A off_target 0/1 128 START_GAINED LOW 0.09345 0.09345 0.12683 None None None None None None BIN1|0.158796127|41.75%
View le-full_variant_table 2 rs4854300
dbSNP Clinvar 		264895 3021.0 G C PASS 1/1 105 START_GAINED LOW 0.99900 0.99900 0.00066 None None None None None None SH3YL1|0.033270213|68.05%,ACP1|0.241498601|32.31%
View le-full_variant_table 1 rs12406197
dbSNP Clinvar 		179545050 1230.0 C A off_target 0/1 78 START_GAINED LOW 0.18331 0.18330 0.19314 None None None None None None NPHS2|0.145330109|43.66%
View le-full_variant_table 1 rs34542411
dbSNP Clinvar 		63836513 202.0 C G low_coverage;off_target 0/1 13 START_GAINED LOW 0.20527 0.20530 None None None None None None ALG6|0.211927647|35.38%
View le-full_variant_table 17 rs14253
dbSNP Clinvar 		39780771 2477.0 G A off_target 0/1 328 START_GAINED LOW 0.07628 0.07628 0.06440 None None None None None None KRT17|0.105716158|50.09%,JUP|0.822839641|5.24%
View le-full_variant_table 1 rs2500341
dbSNP Clinvar 		55464790 1977.0 C G off_target 1/1 68 START_GAINED LOW 0.59505 0.59500 None None None None None None BSND|0.012671316|78.77%
View le-full_variant_table X rs1264011
dbSNP Clinvar 		53449568 10000.0 G A off_target 1/1 113 START_GAINED LOW 0.39841 0.39840 0.40604 None None None None None None SMC1A|0.539151883|14.23%
View le-full_variant_table 22 rs1061063
dbSNP Clinvar 		21213380 3094.0 C T off_target 1/1 110 START_GAINED LOW 0.46386 0.46390 0.48199 None None None None None None PI4KA|0.213566628|35.17%,SNAP29|0.054406719|61.36%
View le-full_variant_table 21 rs3746886
dbSNP Clinvar 		40685598 598.0 G A off_target 1/1 21 START_GAINED LOW 0.83327 0.83330 None None None None None None BRWD1|0.163713366|41.06%
View le-full_variant_table 20 rs6083956
dbSNP Clinvar 		2633114 742.0 C T off_target 1/1 27 START_GAINED LOW 0.85843 0.85840 None None None None None None NOP56|0.577539421|12.69%
View le-full_variant_table 19 rs58264281
dbSNP Clinvar 		57742489 1020.0 C T off_target 1/1 35 START_GAINED LOW 0.76777 0.76780 None None None None None None AURKC|0.010911185|80.15%
View le-full_variant_table 19 rs11084490
dbSNP Clinvar 		57742472 964.0 G C off_target 1/1 34 START_GAINED LOW 0.86761 0.86760 None None None None None None AURKC|0.010911185|80.15%
View le-full_variant_table 19 rs2287754
dbSNP Clinvar 		49496494 449.0 G A PASS 0/1 47 START_GAINED LOW 0.06290 0.06290 None None None None None None GYS1|0.243152412|32.16%
View le-full_variant_table 18 rs34474737
dbSNP Clinvar 		47088655 1250.0 T G off_target 0/1 107 START_GAINED LOW 0.27496 0.27500 0.27641 None None None None None None LIPG|0.212182734|35.32%
View le-full_variant_table 18 rs2277717
dbSNP Clinvar 		44702718 2333.0 C A off_target 1/1 80 START_GAINED LOW 0.33127 0.33130 None None None None None None IER3IP1|0.588707552|12.18%
View le-full_variant_table 18 rs8085444
dbSNP Clinvar 		43652203 2913.0 G A off_target 1/1 100 START_GAINED LOW 0.23802 0.23800 0.28206 None None None None None None PSTPIP2|0.170188293|40.29%
View le-full_variant_table 17 rs2278163
dbSNP Clinvar 		48072426 661.0 G A off_target 0/1 67 START_GAINED LOW 0.38259 0.38260 None None None None None None DLX3|0.167828753|40.58%
View le-full_variant_table 17 rs228758
dbSNP Clinvar 		42148205 351.0 C T PASS 0/1 29 START_GAINED LOW 0.32308 0.32310 None None None None None None G6PC3|0.143551325|43.93%
View le-full_variant_table 16 rs33996472
dbSNP Clinvar 		87903077 1671.0 G A off_target 0/1 164 START_GAINED LOW 0.00060 0.04373 None None None None None None SLC7A5|0.094869709|52.16%
View le-full_variant_table 15 rs7164139
dbSNP Clinvar 		45670851 155.0 G A off_target 0/1 22 START_GAINED LOW 0.44389 0.44390 None None None None None None GATM|0.454733426|17.95%
View le-full_variant_table 15 rs55781567
dbSNP Clinvar 		78857986 1065.0 C G off_target 0/1 121 START_GAINED LOW 0.21945 0.21940 None None None None None None CHRNA5|0.152935897|42.54%
View le-full_variant_table 10 rs717620
dbSNP Clinvar 		101542578 675.0 C T off_target 0/1 73 START_GAINED LOW 0.13498 0.13500 0.15216 None None None None None None ABCC2|0.186653982|38.2%
View le-full_variant_table 9 rs2488553
dbSNP Clinvar 		136599315 3094.0 G A off_target 1/1 110 START_GAINED LOW 0.60264 0.60260 0.33633 None None None None None None SARDH|0.055038461|61.17%
View le-full_variant_table 8 rs11135695
dbSNP Clinvar 		22926498 1088.0 G A PASS 0/1 74 START_GAINED LOW 0.25300 0.25300 None None None None None None TNFRSF10B|0.000696636|97.26%
View le-full_variant_table 7 rs66628686
dbSNP Clinvar 		151573731 2363.0 G A off_target 0/1 179 START_GAINED LOW 0.18890 0.18890 0.12927 None None None None None None PRKAG2|0.30570452|27.16%
View le-full_variant_table 7 rs2252694
dbSNP Clinvar 		150930965 732.0 C T off_target 0/1 36 START_GAINED LOW 0.73682 0.73680 None None None None None None CHPF2|0.166222872|40.78%
View le-full_variant_table 6 rs1546854
dbSNP Clinvar 		166796433 1339.0 C A PASS 0/1 101 START_GAINED LOW 0.84066 0.84070 None None None None None None MPC1|0.108549535|49.45%
View le-full_variant_table 6 rs2272884
dbSNP Clinvar 		108279290 1394.0 G A off_target 1/1 52 START_GAINED LOW 0.92572 0.92570 None None None None None None SEC63|0.687731816|8.89%
View le-full_variant_table 5 rs30177
dbSNP Clinvar 		132202411 273.0 C G off_target 0/1 20 START_GAINED LOW 0.64397 0.64400 None None None None None None GDF9|0.168355003|40.53%,UQCRQ|0.208765875|35.72%
View le-full_variant_table 5 rs30178
dbSNP Clinvar 		132202399 164.0 T C low_coverage;off_target 0/1 17 START_GAINED LOW 0.64437 0.64440 None None None None None None GDF9|0.168355003|40.53%,UQCRQ|0.208765875|35.72%
View le-full_variant_table 4 rs16843684
dbSNP Clinvar 		2965676 760.0 C T off_target 0/1 57 START_GAINED LOW 0.28994 0.28990 None None None None None None GRK4|0.014130341|77.79%
View le-full_variant_table 3 rs113569514
dbSNP Clinvar 		133748789 303.0 T C off_target 0/1 20 START_GAINED LOW 0.28894 0.28890 None None None None None None SLCO2A1|0.061541406|59.42%
View le-full_variant_table 3 rs2607775
dbSNP Clinvar 		14220095 10000.0 C G PASS 1/1 188 START_GAINED LOW 0.32788 0.32790 0.43468 None None None None None None XPC|0.047964422|63.33%,LSM3|0.569845277|13%
View le-full_variant_table 2 rs12476527
dbSNP Clinvar 		26915624 457.0 G T off_target 0/1 30 START_GAINED LOW 0.42552 0.42550 None None None None None None KCNK3|0.310648351|26.78%
View le-full_variant_table 16 rs3743602
dbSNP Clinvar 		75590113 2950.0 C G PASS 0/1 306 START_GAINED LOW 0.19709 0.19710 0.17539 None None None None None None TMEM231|0.164994704|40.93%
View le-full_variant_table 15 rs3743364
dbSNP Clinvar 		92937276 2525.0 C T off_target 1/1 89 START_GAINED LOW 0.57328 0.57330 0.26005 None None None None None None ST8SIA2|0.471581284|17.11%
View le-full_variant_table 15 rs3743365
dbSNP Clinvar 		92937268 2211.0 G T off_target 1/1 80 START_GAINED LOW 0.57628 0.57630 0.25263 None None None None None None ST8SIA2|0.471581284|17.11%
View le-full_variant_table 15 rs117484961
dbSNP Clinvar 		91769480 1683.0 C T off_target 0/1 143 START_GAINED LOW 0.00240 0.00240 0.00539 None None None None None None SV2B|0.204293039|36.2%
View le-full_variant_table 12 . 52345503 109.0 G T low_variant_fraction;off_target 0/1 65 START_GAINED LOW None None None None None None ACVR1B|0.615892745|11.26%
View le-full_variant_table 11 rs1944612
dbSNP Clinvar 		74862391 1587.0 A G off_target 1/1 55 START_GAINED LOW 0.97584 0.97580 0.00054 None None None None None None SLCO2B1|0.05859888|60.24%
View le-full_variant_table 10 rs2577360
dbSNP Clinvar 		118031619 2613.0 G A off_target 1/1 89 START_GAINED LOW 0.49980 0.49980 None None None None None None GFRA1|0.934619361|2.66%
View le-full_variant_table 9 rs10115191
dbSNP Clinvar 		34729452 3199.0 A G off_target 1/1 107 START_GAINED LOW 0.63698 0.63700 0.39685 None None None None None None FAM205A|0.002678483|89.31%
View le-full_variant_table 9 rs3739674
dbSNP Clinvar 		32526233 1441.0 G C off_target 1/1 48 START_GAINED LOW 0.53674 0.53670 None None None None None None DDX58|0.150707503|42.88%
View le-full_variant_table 8 rs2306486
dbSNP Clinvar 		74888494 860.0 C T PASS 0/1 100 START_GAINED LOW 0.21665 0.21670 0.24446 None None None None None None TMEM70|0.01706681|75.8%
View le-full_variant_table 5 rs1042711
dbSNP Clinvar 		148206348 971.0 C T off_target 0/1 114 START_GAINED LOW 0.79313 0.79310 0.34436 None None None None None None ADRB2|0.766324239|6.71%
View le-full_variant_table 5 rs778594
dbSNP Clinvar 		140027304 595.0 T C PASS 0/1 47 START_GAINED LOW 0.37760 0.37760 None None None None None None NDUFA2|0.105624342|50.11%,IK|0.556266248|13.47%
View le-full_variant_table 4 rs28672900
dbSNP Clinvar 		69434217 10000.0 G A off_target 1/1 307 START_GAINED LOW 0.99401 0.99400 0.00894 None None None None None None UGT2B17|0.003689216|87.45%
View le-full_variant_table 1 rs2307130
dbSNP Clinvar 		100316589 1919.0 A G off_target 1/1 66 START_GAINED LOW 0.42712 0.42710 0.41573 None None None None None None AGL|0.644094308|10.32%
View le-full_variant_table 1 rs10917413
dbSNP Clinvar 		24018277 2613.0 C G off_target 1/1 90 START_GAINED LOW 0.97684 0.97680 0.01615 None None None None None None RPL11|0.770814273|6.52%
  • Page 1 of 1