Variant (rsID / SNP)

rs76420383

rs76420383 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OTOGL. Location: chromosome 12, position 80,655,849. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

OTOGLBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:80655849
Cytoband: 12q21.31
HGVS: NM_001378609.3(OTOGL):c.1990C>T (p.Pro664Ser)
Allele change: Missense_P655S

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.