Variant (rsID / SNP)

rs113993988

rs113993988 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PYGL. Location: chromosome 14, position 51,372,193. The table records no clinical significance for this variant.

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Reference-table entries

PYGLNot classified

Variant type: single nucleotide variant
Chromosome / position: 14:51372193
Cytoband: 14q22.1
HGVS: NM_002863.5(PYGL):c.2461T>C (p.Tyr821His)
Allele change: Missense_Y787H

Associated conditions / phenotypes

Glycogen storage disease, type VI

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.