Variant (rsID / SNP)

rs4757548

rs4757548 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OTOG. Location: chromosome 11, position 17,596,313. Clinical significance in the table: Benign.

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Reference-table entries

OTOGBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 11:17596313
Cytoband: 11p15.1
HGVS: NM_001292063.2(OTOG):c.2340G>A (p.Pro780=)
Allele change: Synonymous_P792P

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 18B

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.