Variant (rsID / SNP)

rs121909059

rs121909059 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TECTA. Location: chromosome 11, position 121,008,357. Clinical significance in the table: Pathogenic.

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Reference-table entries

TECTAPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:121008357
Cytoband: 11q23.3
HGVS: NM_005422.4(TECTA):c.3169T>A (p.Cys1057Ser)
Allele change: Missense_C1057S

Associated conditions / phenotypes

Autosomal dominant nonsyndromic hearing loss 12

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.