Variant (rsID / SNP)

rs397516874

rs397516874 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB2. Location: chromosome 13, position 20,763,351. Clinical significance in the table: Pathogenic.

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Reference-table entries

GJB2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 13:20763351
Cytoband: 13q12.11
HGVS: NM_004004.6(GJB2):c.370C>T (p.Gln124Ter)
Allele change: Nonsense_Q124X

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 1A|Rare genetic deafness|Hearing loss

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.