Variant (rsID / SNP)
rs111033294
rs111033294 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB2. Location: chromosome 13, position 20,763,104. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
GJB2Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 13:20763104
- Cytoband
- 13q12.11
- HGVS
- NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)
- Allele change
- Missense_N206S
Associated conditions / phenotypes
Autosomal recessive nonsyndromic hearing loss 1A|Hearing impairment|Rare genetic deafness|8 conditions|Autosomal recessive nonsyndromic hearing loss 1A|Autosomal recessive nonsyndromic hearing loss 1B|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.