Variant (rsID / SNP)

rs74315339

rs74315339 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYOC. Location: chromosome 1, position 171,621,608. 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: 1:171621608
Cytoband: 1q24.3
HGVS: NM_000261.2(MYOC):c.144G>T (p.Gln48His)
Allele change: Missense_Q48H

Associated conditions / phenotypes

Glaucoma 3, primary congenital, a, digenic|Glaucoma 1, open angle, A|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.