Variant (rsID / SNP)

rs144343770

rs144343770 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TECTA. Location: chromosome 11, position 121,039,471. Clinical significance in the table: Likely benign.

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Reference-table entries

TECTALikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:121039471
Cytoband: 11q23.3
HGVS: NM_005422.4(TECTA):c.5836T>C (p.Tyr1946His)
Allele change: Missense_Y1946H

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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