Variant (rsID / SNP)
rs2274750
rs2274750 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNC. Location: chromosome 9, position 117,803,271. Clinical significance in the table: Benign.
Reference-table entries
TNCBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:117803271
- Cytoband
- 9q33.1
- HGVS
- NM_002160.4(TNC):c.5341G>A (p.Ala1781Thr)
- Allele change
- Missense_A1781T
Associated conditions / phenotypes
Autosomal dominant nonsyndromic hearing loss 56
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.