Variant (rsID / SNP)

rs113993987

rs113993987 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PYGL. Location: chromosome 14, position 51,376,748. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PYGLUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 14:51376748
Cytoband: 14q22.1
HGVS: NM_002863.5(PYGL):c.2042A>C (p.Lys681Thr)
Allele change: Missense_K647T

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.