Variant (rsID / SNP)
rs80338849
rs80338849 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC26A4. Location: chromosome 7, position 107,323,983. Clinical significance in the table: Pathogenic.
Reference-table entries
SLC26A4Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:107323983
- Cytoband
- 7q22.3
- HGVS
- NM_000441.2(SLC26A4):c.1001+1G>A
- Allele change
- Silent
Associated conditions / phenotypes
Pendred syndrome|Pendred syndrome|Autosomal recessive nonsyndromic hearing loss 4|SLC26A4-Related Disorders|Autosomal recessive nonsyndromic hearing loss 4|Rare genetic deafness
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.