Variant (rsID / SNP)
rs80338940
rs80338940 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB2. Location: chromosome 13, position 20,766,921. Clinical significance in the table: Pathogenic.
Reference-table entries
GJB2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 13:20766921
- Cytoband
- 13q12.11
- HGVS
- NM_004004.6(GJB2):c.-23+1G>A
- Allele change
- Silent
Associated conditions / phenotypes
Autosomal recessive nonsyndromic hearing loss 1A|Hearing impairment|Rare genetic deafness|Hearing loss|8 conditions|Autosomal recessive nonsyndromic hearing loss 1B|Autosomal recessive nonsyndromic hearing loss 1A|Nonsyndromic genetic hearing loss|Hearing loss, autosomal recessive|Ear malformation|Autosomal recessive nonsyndromic hearing loss 1A
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.