Variant (rsID / SNP)

rs200208925

rs200208925 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYOC. Location: chromosome 1, position 171,621,594. Clinical significance in the table: Likely benign.

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Reference-table entries

MYOCLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:171621594
Cytoband: 1q24.3
HGVS: NM_000261.2(MYOC):c.158T>C (p.Val53Ala)
Allele change: Missense_V53A

Associated conditions / phenotypes

MYOC-Related Disorders|Glaucoma of childhood

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.