Variant (rsID / SNP)

rs119103251

rs119103251 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PYGM. Location: chromosome 11, position 64,525,298. Clinical significance in the table: Pathogenic.

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Reference-table entries

PYGMPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:64525298
Cytoband: 11q13.1
HGVS: NM_005609.4(PYGM):c.613G>A (p.Gly205Ser)
Allele change: Missense_G205S

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.