Variant (rsID / SNP)
rs80338947
rs80338947 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB2. Location: chromosome 13, position 20,763,361. Clinical significance in the table: Pathogenic.
Reference-table entries
GJB2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Microsatellite
- Chromosome / position
- 13:20763361
- Cytoband
- 13q12.11
- HGVS
- NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del)
Associated conditions / phenotypes
Autosomal recessive nonsyndromic hearing loss 1A|Hearing impairment|Rare genetic deafness|Hearing loss|Nonsyndromic genetic hearing loss
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.