Variant (rsID / SNP)

rs200038732

rs200038732 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PYGM. Location: chromosome 11, position 64,525,765. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PYGMUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:64525765
Cytoband: 11q13.1
HGVS: NM_005609.4(PYGM):c.481C>T (p.Arg161Cys)
Allele change: Missense_R161C

Associated conditions / phenotypes

Glycogen storage disease, type V

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.