Variant (rsID / SNP)

rs143759519

rs143759519 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PYGL. Location: chromosome 14, position 51,382,637. 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: 14:51382637
Cytoband: 14q22.1
HGVS: NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu)
Allele change: Missense_P348L

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.