Variant (rsID / SNP)

rs138141474

rs138141474 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OTOA. Location: chromosome 16, position 21,728,262. Clinical significance in the table: Benign.

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Reference-table entries

OTOABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:21728262
Cytoband: 16p12.2
HGVS: NM_144672.4(OTOA):c.1523T>C (p.Val508Ala)
Allele change: Missense_V508A

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 22

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.