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Variant (rsID / SNP)

rs202199158

TECTA

rs202199158 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TECTA. Location: chromosome 11, position 121,028,559. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TECTAConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:121028559
Cytoband
11q23.3
HGVS
NM_005422.4(TECTA):c.4315C>A (p.Leu1439Ile)
Allele change
Missense_L1439I

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.