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Variant (rsID / SNP)

rs35026927

PYGL

rs35026927 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PYGL. Location: chromosome 14, position 51,378,517. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PYGLConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
14:51378517
Cytoband
14q22.1
HGVS
NM_002863.5(PYGL):c.1900G>C (p.Asp634His)
Allele change
Missense_D600H

Associated conditions / phenotypes

Glycogen storage disease, type VI

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.