Variant (rsID / SNP)

rs182000850

rs182000850 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OTOG. Location: chromosome 11, position 17,634,200. 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: 11:17634200
Cytoband: 11p15.1
HGVS: NM_001292063.2(OTOG):c.6326T>C (p.Val2109Ala)
Allele change: Missense_V2121A

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.