Variant (rsID / SNP)
rs1801002
rs1801002 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB2. Location: chromosome 13, position 20,763,686. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
GJB2Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 13:20763686
- Cytoband
- 13q12.11
- HGVS
- NM_004004.6(GJB2):c.35G>T (p.Gly12Val)
- Allele change
- Missense_G12V
Associated conditions / phenotypes
Autosomal recessive nonsyndromic hearing loss 1A|Hearing impairment|Rare genetic deafness|Autosomal dominant nonsyndromic hearing loss 3A|Nonsyndromic genetic hearing loss|Autosomal recessive nonsyndromic hearing loss 1A
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.