Variant (rsID / SNP)

rs1126728

rs1126728 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PGM1. Location: chromosome 1, position 64,097,432. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PGM1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:64097432
Cytoband: 1p31.3
HGVS: NM_002633.3(PGM1):c.661C>T (p.Arg221Cys)
Allele change: Missense_R221C

Associated conditions / phenotypes

Congenital disorder of glycosylation|PGM1-congenital disorder of glycosylation

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.