Variant (rsID / SNP)

rs138130157

rs138130157 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRKAG3. Location: chromosome 2, position 219,693,284. Clinical significance in the table: association.

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Reference-table entries

PRKAG3Association

Clinical significance (as recorded): association
Variant type: single nucleotide variant
Chromosome / position: 2:219693284
Cytoband: 2q35
HGVS: NM_017431.4(PRKAG3):c.673C>T (p.Arg225Trp)
Allele change: Missense_R225W

Associated conditions / phenotypes

SKELETAL MUSCLE GLYCOGEN CONTENT AND METABOLISM QUANTITATIVE TRAIT LOCUS

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.