Variant (rsID / SNP)

rs144012985

rs144012985 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TECTA. Location: chromosome 11, position 121,008,680. 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: 11:121008680
Cytoband: 11q23.3
HGVS: NM_005422.4(TECTA):c.3492C>T (p.Thr1164=)
Allele change: Synonymous_T1164T

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.