Variant (rsID / SNP)

rs1805063

rs1805063 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB3. Location: chromosome 1, position 35,250,457. Clinical significance in the table: Benign.

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Reference-table entries

GJB3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:35250457
Cytoband: 1p34.3
HGVS: NM_024009.3(GJB3):c.94C>T (p.Arg32Trp)
Allele change: Missense_R32W

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.