Variant (rsID / SNP)
rs80338943
rs80338943 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB2. Location: chromosome 13, position 20,763,486. Clinical significance in the table: Pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 13:20763486
- Cytoband
- 13q12.11
- HGVS
- NM_004004.6(GJB2):c.235del (p.Leu79fs)
Associated conditions / phenotypes
Autosomal recessive nonsyndromic hearing loss 1A|Deafness, digenic, GJB2/GJB3|Hearing impairment|Nonsyndromic genetic hearing loss|Autosomal dominant nonsyndromic hearing loss 3A|Autosomal dominant nonsyndromic hearing loss 3A|Autosomal recessive nonsyndromic hearing loss 1A|Hearing loss|Rare genetic deafness|Autosomal recessive nonsyndromic hearing loss 1B|Autosomal recessive nonsyndromic hearing loss 1A|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.