Variant (rsID / SNP)
rs587783646
rs587783646 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GJB2. Location: chromosome 13, position 20,763,088. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
GJB2Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Microsatellite
- Chromosome / position
- 13:20763088
- Cytoband
- 13q12.11
- HGVS
- NM_004004.6(GJB2):c.632_633del (p.Cys211fs)
Associated conditions / phenotypes
Hearing impairment|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.