Variant (rsID / SNP)

rs11114416

rs11114416 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OTOGL. Location: chromosome 12, position 80,761,411. Clinical significance in the table: Benign.

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Reference-table entries

OTOGLBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 12:80761411
Cytoband: 12q21.31
HGVS: NM_001378609.3(OTOGL):c.6402G>T (p.Leu2134Phe)
Allele change: Missense_L2125F

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.