Variant (rsID / SNP)
rs80338948
rs80338948 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB2. Location: chromosome 13, position 20,763,294. Clinical significance in the table: Pathogenic.
Reference-table entries
GJB2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 13:20763294
- Cytoband
- 13q12.11
- HGVS
- NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)
- Allele change
- Missense_R143W
Associated conditions / phenotypes
Autosomal recessive nonsyndromic hearing loss 1A|Hearing impairment|Rare genetic deafness|8 conditions|Hearing loss|7 conditions|Nonsyndromic genetic hearing loss|Autosomal dominant nonsyndromic hearing loss 3A|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.