Variant (rsID / SNP)

rs587783647

rs587783647 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB2. Location: chromosome 13, position 20,763,071. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

GJB2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: Deletion
Chromosome / position: 13:20763071
Cytoband: 13q12.11
HGVS: NM_004004.6(GJB2):c.647_650del (p.Arg216fs)

Associated conditions / phenotypes

Hearing impairment|Autosomal recessive nonsyndromic hearing loss 1A|Rare genetic deafness|Autosomal dominant nonsyndromic hearing loss 3A|Inborn genetic diseases

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.