Variant (rsID / SNP)

rs104894812

rs104894812 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB1. Clinical significance in the table: Pathogenic.

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Reference-table entries

GJB1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq13.1
HGVS: NM_000166.6(GJB1):c.415G>A (p.Val139Met)
Allele change: Silent

Associated conditions / phenotypes

Charcot-Marie-Tooth disease X-linked dominant 1|Charcot-Marie-Tooth Neuropathy X|Charcot-Marie-Tooth disease

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.