Variant (rsID / SNP)
rs80338939
rs80338939 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.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 13:20763686
- Cytoband
- 13q12.11
- HGVS
- NM_004004.6(GJB2):c.35del (p.Gly12fs)
Associated conditions / phenotypes
Autosomal recessive nonsyndromic hearing loss 1A|Deafness, digenic, GJB2/GJB6|Hearing impairment|Nonsyndromic genetic hearing loss|Autosomal dominant nonsyndromic hearing loss 3A|Hearing impairment|Bilateral sensorineural hearing impairment|Severe sensorineural hearing impairment|Hearing impairment|Bilateral conductive hearing impairment|Bilateral sensorineural hearing impairment|7 conditions|Deafness|Nonsyndromic Hearing Loss, Recessive|Inborn genetic diseases|Hearing loss|Rare genetic deafness|Autosomal recessive nonsyndromic hearing loss 1B|Autosomal recessive nonsyndromic hearing loss 1A|Hearing loss, autosomal recessive|Knuckle pads, deafness AND leukonychia syndrome|Mutilating keratoderma|Ear malformation
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.