Variant (rsID / SNP)

rs74315330

rs74315330 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYOC. Location: chromosome 1, position 171,605,471. 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: 1:171605471
Cytoband: 1q24.3
HGVS: NM_000261.2(MYOC):c.1109C>T (p.Pro370Leu)
Allele change: Missense_P370L

Associated conditions / phenotypes

Glaucoma 1, open angle, A|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.