Variant (rsID / SNP)

rs138151478

rs138151478 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OTOF. Location: chromosome 2, position 26,688,863. Clinical significance in the table: Likely benign.

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Reference-table entries

OTOFLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:26688863
Cytoband: 2p23.3
HGVS: NM_194248.3(OTOF):c.4582G>A (p.Asp1528Asn)
Allele change: Missense_D1528N

Associated conditions / phenotypes

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.