Variant (rsID / SNP)

rs113806080

rs113806080 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PYGM. Location: chromosome 11, position 64,518,016. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PYGMBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:64518016
Cytoband: 11q13.1
HGVS: NM_005609.4(PYGM):c.2009C>T (p.Ala670Val)
Allele change: Missense_A670V

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.