Variant (rsID / SNP)

rs730882148

rs730882148 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRKAG2. Location: chromosome 7, position 151,265,884. Clinical significance in the table: Pathogenic.

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Reference-table entries

PRKAG2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:151265884
Cytoband: 7q36.1
HGVS: NM_016203.4(PRKAG2):c.1151G>C (p.Arg384Thr)
Allele change: Missense_R143T

Associated conditions / phenotypes

Lethal congenital glycogen storage disease of heart

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.