Variant (rsID / SNP)

rs145160241

rs145160241 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OTOA. Location: chromosome 16, position 21,739,665. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

OTOABenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:21739665
Cytoband: 16p12.2
HGVS: NM_144672.4(OTOA):c.2120C>T (p.Ala707Val)
Allele change: Missense_A707V

Associated conditions / phenotypes

Hearing loss, autosomal recessive

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.