Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs520805

TECTA

rs520805 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TECTA. Location: chromosome 11, position 121,000,774. Clinical significance in the table: Benign/Likely benign.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

TECTABenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
11:121000774
Cytoband
11q23.3
HGVS
NM_005422.4(TECTA):c.2795T>C (p.Val932Ala)
Allele change
Missense_V932A

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.