Variant (rsID / SNP)
rs148440178
rs148440178 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TECTA. Location: chromosome 11, position 121,016,781. Clinical significance in the table: Uncertain significance.
Reference-table entries
TECTAUncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:121016781
- Cytoband
- 11q23.3
- HGVS
- NM_005422.4(TECTA):c.4061C>G (p.Thr1354Ser)
- Allele change
- Missense_T1354I
Associated conditions / phenotypes
Autosomal recessive nonsyndromic hearing loss 21|Autosomal dominant nonsyndromic hearing loss 12
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
