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rs572115942

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 6 In type-1 diabetics (only), Mauriac syndrome predicted
(G;G) 0 common/normal


Make rs572115942(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position30756714
GenePHKG2
is asnp
is mentioned by
dbSNPrs572115942
ebirs572115942
HLIrs572115942
Exacrs572115942
Varsomers572115942
Maprs572115942
PheGenIrs572115942
hapmaprs572115942
1000 genomesrs572115942
hgdprs572115942
ensemblrs572115942
gopubmedrs572115942
geneviewrs572115942
scholarrs572115942
googlers572115942
pharmgkbrs572115942
gwascentralrs572115942
openSNPrs572115942
23andMers572115942
23andMe allrs572115942
SNP Nexus

SNPshotrs572115942
SNPdbers572115942
MSV3drs572115942
GWAS Ctlgrs572115942
Max Magnitude6
rs572115942, also known as c.1136G>A, p.Arg309Gln and R309Q, is a rare variant in the PHKG2 gene on chromosome 16. The PHKG2 gene encodes an enzyme required to break down glycogen in the liver.

In a pediatric patient with Mauriac syndrome, a rare syndrome found in some children with poorly controlled type-1 diabetes, a single rs572115942(A) allele was found by sequencing. The patient's mother carried the same allele, but did not have diabetes or hepatomegaly; his father had childhood type-1 diabetes but didn't have the mutation, hepatomegaly or growth failure. The authors conclude that in patients with type-1 diabetes, liver glycogen accumulates due to combination of the mutated enzyme and high blood sugar, leading to the enlarged liver and Mauriac syndrome.[PMID 27207549]

ClinVar
Risk rs572115942(A;A)
Alt rs572115942(A;A)
Reference rs572115942(G;G)
Significance Unknown
Disease not provided
Variation info
Gene PHKG2
CLNDBN not provided
Reversed 0
HGVS NC_000016.9:g.30768035G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000239479.1,