Variant (rsID / SNP)

rs17005371

rs17005371 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OTOF. Location: chromosome 2, position 26,687,761. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

OTOFBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:26687761
Cytoband: 2p23.3
HGVS: NM_194248.3(OTOF):c.4936C>T (p.Pro1646Ser)
Allele change: Missense_P1646S

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.