rs572115942
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 6 | In type-1 diabetics (only), Mauriac syndrome predicted |
| (G;G) | 0 | common/normal |
| Make rs572115942(A;A) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 16 |
| Position | 30756714 |
| Gene | PHKG2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs572115942 |
| dbSNP (classic) | rs572115942 |
| ClinGen | rs572115942 |
| ebi | rs572115942 |
| HLI | rs572115942 |
| Exac | rs572115942 |
| Gnomad | rs572115942 |
| Varsome | rs572115942 |
| LitVar | rs572115942 |
| Map | rs572115942 |
| PheGenI | rs572115942 |
| Biobank | rs572115942 |
| 1000 genomes | rs572115942 |
| hgdp | rs572115942 |
| ensembl | rs572115942 |
| geneview | rs572115942 |
| scholar | rs572115942 |
| rs572115942 | |
| pharmgkb | rs572115942 |
| gwascentral | rs572115942 |
| openSNP | rs572115942 |
| 23andMe | rs572115942 |
| SNPshot | rs572115942 |
| SNPdbe | rs572115942 |
| MSV3d | rs572115942 |
| GWAS Ctlg | rs572115942 |
| Max Magnitude | 6 |
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 | Pathogenic |
| Disease | not provided Mauriac syndrome |
| Variation | info |
| Gene | PHKG2 |
| CLNDBN | not provided Mauriac syndrome |
| Reversed | 0 |
| HGVS | NC_000016.9:g.30768035G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000239479.2, RCV000255740.1, |
