Variant (rsID / SNP)

rs74315317

rs74315317 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB3. Location: chromosome 1, position 35,250,619. Clinical significance in the table: Pathogenic.

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Reference-table entries

GJB3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:35250619
Cytoband: 1p34.3
HGVS: NM_024009.3(GJB3):c.256T>A (p.Cys86Ser)
Allele change: Missense_C86S

Associated conditions / phenotypes

Erythrokeratodermia variabilis et progressiva 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.