Variant (rsID / SNP)
rs80338950
rs80338950 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB2. Location: chromosome 13, position 20,763,170. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
GJB2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 13:20763170
- Cytoband
- 13q12.11
- HGVS
- NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)
- Allele change
- Missense_R184P
Associated conditions / phenotypes
Autosomal recessive nonsyndromic hearing loss 1A|Rare genetic deafness|Hearing loss|8 conditions|Ichthyosis, hystrix-like, with hearing loss|Autosomal dominant nonsyndromic hearing loss 3A|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.