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Variant (rsID / SNP)

rs281865415

TECTA

rs281865415 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TECTA. Location: chromosome 11, position 121,037,361. Clinical significance in the table: no interpretation for the single variant.

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Reference-table entries

TECTAOther
Clinical significance (as recorded)
no interpretation for the single variant
Variant type
single nucleotide variant
Chromosome / position
11:121037361
Cytoband
11q23.3
HGVS
NM_005422.4(TECTA):c.5458C>T (p.Leu1820Phe)
Allele change
Missense_L1820F

Associated conditions / phenotypes

Deafness, Autosomal Dominant 12

Public references

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