Variant (rsID / SNP)
rs80338942
rs80338942 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB2. Location: chromosome 13, position 20,763,554. Clinical significance in the table: Pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 13:20763554
- Cytoband
- 13q12.11
- HGVS
- NM_004004.6(GJB2):c.167del (p.Leu56fs)
Associated conditions / phenotypes
Autosomal recessive nonsyndromic hearing loss 1A|Hearing impairment|Nonsyndromic genetic hearing loss|Mutilating keratoderma|GJB2-Related Disorders|Nonsyndromic Hearing Loss, Dominant|Keratitis ichthyosis and deafness syndrome|Ichthyosis, hystrix-like, with hearing loss|Autosomal dominant nonsyndromic hearing loss 3A|7 conditions|Hearing loss|Rare genetic deafness|Autosomal recessive nonsyndromic hearing loss 1B|Autosomal recessive nonsyndromic hearing loss 1A|See cases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.