Variant (rsID / SNP)
rs80338945
rs80338945 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB2. Location: chromosome 13, position 20,763,452. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 13:20763452
- Cytoband
- 13q12.11
- HGVS
- NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)
- Allele change
- Missense_L90P
Associated conditions / phenotypes
Autosomal recessive nonsyndromic hearing loss 1A|Hearing impairment|Rare genetic deafness|Autosomal dominant nonsyndromic hearing loss 3A|8 conditions|Hearing loss|Autosomal recessive nonsyndromic hearing loss 1B|Autosomal recessive nonsyndromic hearing loss 1A|Ichthyosis, hystrix-like, with hearing loss|Nonsyndromic genetic hearing loss|Mutilating keratoderma|Deafness|See cases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.