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+ Genes 3

Genes:
ANK2, PDLIM3, SLC25A4,

+ Genes associated with diseases 2

Genes at Omim

ANK2, SLC25A4,
ANK2 Cardiac arrhythmia, ankyrin-B-related, 600919 (3)
Long QT syndrome 4, 600919 (3)
SLC25A4 Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184 (3)
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418 (3)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283 (3)

Genes at Clinical Genomics Database

ANK2, SLC25A4,
ANK2 Long QT syndrome, 4
Cardiac arrhythmia, ankyrin-B-related
SLC25A4 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2
Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)

Genes at HGMD

Summary

Number of Variants: 3
Number of Genes: 3

Export to: CSV
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ANK2
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 na12877-rep1_s1 4 rs7689214
dbSNP Clinvar 		114067145 2710.75 G A PASS 0/1 234 None None None 0.18411 0.18410 0.36 0.01 None None None None None None ANK2|0.34993042|24.11%

PDLIM3
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 na12877-rep1_s1 4 rs4635850
dbSNP Clinvar 		186423637 3010.07 G A PASS 0/1 277 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.65955 0.65950 0.30332 None None None None None None PDLIM3|0.223331609|34.03%

SLC25A4
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 na12877-rep1_s1 4 rs149101873
dbSNP Clinvar 		186066373 4039.15 T C PASS 0/1 318 SYNONYMOUS_CODING LOW None 0.00240 0.00240 0.00784 None None None None None None SLC25A4|0.324667207|25.81%
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