Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs186780639

TECTA

rs186780639 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TECTA. Location: chromosome 11, position 121,008,699. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

TECTAConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:121008699
Cytoband
11q23.3
HGVS
NM_005422.4(TECTA):c.3511G>A (p.Val1171Met)
Allele change
Missense_V1171M

Associated conditions / phenotypes

Autosomal dominant nonsyndromic hearing loss 12|Autosomal recessive nonsyndromic hearing loss 21

Public references

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