Variant (rsID / SNP)

rs756928158

rs756928158 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB1. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

GJB1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xq13.1
HGVS: NM_000166.6(GJB1):c.271G>A (p.Val91Met)
Allele change: Silent

Associated conditions / phenotypes

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

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.