Variant (rsID / SNP)
rs2274084
rs2274084 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB2. Location: chromosome 13, position 20,763,642. Clinical significance in the table: Benign.
Reference-table entries
GJB2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 13:20763642
- Cytoband
- 13q12.11
- HGVS
- NM_004004.6(GJB2):c.79G>A (p.Val27Ile)
- Allele change
- Missense_V27I
Associated conditions / phenotypes
Autosomal recessive nonsyndromic hearing loss 1A|Autosomal dominant nonsyndromic hearing loss 3A|Autosomal recessive nonsyndromic hearing loss 1A|Autosomal dominant nonsyndromic hearing loss 3A|Nonsyndromic genetic hearing loss|Ichthyosis, hystrix-like, with hearing loss
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.