Variant (rsID / SNP)

rs946616

rs946616 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PYGL. Location: chromosome 14, position 51,387,782. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PYGLBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 14:51387782
Cytoband: 14q22.1
HGVS: NM_002863.5(PYGL):c.664G>A (p.Val222Ile)
Allele change: Missense_V188I

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.