Variant (rsID / SNP)
rs28939086
rs28939086 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC26A4. Location: chromosome 7, position 107,330,665. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SLC26A4Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:107330665
- Cytoband
- 7q22.3
- HGVS
- NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro)
- Allele change
- Missense_T416P
Associated conditions / phenotypes
Pendred syndrome|Pendred syndrome|Autosomal recessive nonsyndromic hearing loss 4|SLC26A4-Related Disorders|Rare genetic deafness|Autosomal recessive nonsyndromic hearing loss 4
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.