Variant (rsID / SNP)

rs34096980

rs34096980 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PYGL. Location: chromosome 14, position 51,390,736. Clinical significance in the table: Likely benign.

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Reference-table entries

PYGLLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 14:51390736
Cytoband: 14q22.1
HGVS: NM_002863.5(PYGL):c.611A>G (p.Tyr204Cys)
Allele change: Missense_Y170C

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.