Variant (rsID / SNP)

rs150483902

rs150483902 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PYGL. Location: chromosome 14, position 51,410,946. Clinical significance in the table: Benign.

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Reference-table entries

PYGLBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 14:51410946
Cytoband: 14q22.1
HGVS: NM_002863.5(PYGL):c.176C>T (p.Thr59Met)
Allele change: Missense_T59M

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.