Variant (rsID / SNP)
rs74315334
rs74315334 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYOC. Location: chromosome 1, position 171,605,481. Clinical significance in the table: Pathogenic.
Reference-table entries
MYOCPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:171605481
- Cytoband
- 1q24.3
- HGVS
- NM_000261.2(MYOC):c.1099G>A (p.Gly367Arg)
- Allele change
- Missense_G367R
Associated conditions / phenotypes
Glaucoma 1, open angle, A|Glaucoma of childhood
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.