Variant (rsID / SNP)

rs201284617

rs201284617 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP26C1. Location: chromosome 10, position 94,821,918. Clinical significance in the table: Likely benign.

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Reference-table entries

CYP26C1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 10:94821918
Cytoband: 10q23.33
HGVS: NM_183374.3(CYP26C1):c.356A>C (p.Gln119Pro)
Allele change: Missense_Q119P

Associated conditions / phenotypes

Optic nerve hypoplasia

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.