Variant (rsID / SNP)

rs28936694

rs28936694 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYOC. Location: chromosome 1, position 171,605,384. Clinical significance in the table: Pathogenic.

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Reference-table entries

MYOCPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:171605384
Cytoband: 1q24.3
HGVS: NM_000261.2(MYOC):c.1196G>T (p.Gly399Val)
Allele change: Missense_G399V

Associated conditions / phenotypes

Glaucoma 1, open angle, a, digenic

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.