Variant (rsID / SNP)

rs180703235

rs180703235 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OTOG. Location: chromosome 11, position 17,662,616. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

OTOGBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:17662616
Cytoband: 11p15.1
HGVS: NM_001292063.2(OTOG):c.8168T>C (p.Leu2723Pro)
Allele change: Missense_L2735P

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.