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Variant (rsID / SNP)

rs147890616

TECTA

rs147890616 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TECTA. Location: chromosome 11, position 121,008,594. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TECTAUncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
11:121008594
Cytoband
11q23.3
HGVS
NM_005422.4(TECTA):c.3406G>C (p.Asp1136His)
Allele change
Missense_D1136H

Associated conditions / phenotypes

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