Variant (rsID / SNP)
rs139165033
rs139165033 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TECTA. Location: chromosome 11, position 120,998,747. Clinical significance in the table: Likely benign.
Reference-table entries
TECTALikely benign
- Clinical significance (as recorded)
- Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:120998747
- Cytoband
- 11q23.3
- HGVS
- NM_005422.4(TECTA):c.2061C>G (p.Asn687Lys)
- Allele change
- Missense_N687K
Associated conditions / phenotypes
Autosomal dominant nonsyndromic hearing loss 12|Autosomal recessive nonsyndromic hearing loss 21|Nonsyndromic genetic hearing loss|Hearing impairment
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
