Variant (rsID / SNP)

rs150547274

rs150547274 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PYGL. Location: chromosome 14, position 51,378,470. Clinical significance in the table: Pathogenic.

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Reference-table entries

PYGLPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:51378470
Cytoband: 14q22.1
HGVS: NM_002863.5(PYGL):c.1947C>A (p.Tyr649Ter)
Allele change: Nonsense_Y615X

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.