Variant (rsID / SNP)

rs104894820

rs104894820 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.37G>T (p.Val13Leu)
Allele change: Silent

Associated conditions / phenotypes

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.