Variant (rsID / SNP)

rs13004993

rs13004993 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OTOF. Location: chromosome 2, position 26,702,412. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

OTOFBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:26702412
Cytoband: 2p23.3
HGVS: NM_194248.3(OTOF):c.2022C>T (p.Asp674=)
Allele change: Synonymous_D674D

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 9

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.