Variant (rsID / SNP)
rs28936415
rs28936415 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PMM2. Location: chromosome 16, position 8,905,010. Clinical significance in the table: Pathogenic.
Reference-table entries
PMM2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:8905010
- Cytoband
- 16p13.2
- HGVS
- NM_000303.3(PMM2):c.422G>A (p.Arg141His)
- Allele change
- Missense_R141H
Associated conditions / phenotypes
PMM2-congenital disorder of glycosylation|Inborn genetic diseases|6 conditions|Congenital disorder of glycosylation|Muscular dystrophy|Congenital cerebellar hypoplasia|Diabetes mellitus|Cerebellar ataxia|Cerebellar ataxia|Congenital cerebellar hypoplasia|Congenital disorder of glycosylation type I
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.