Have questions? Visit https://www.reddit.com/r/SNPedia

rs80356490

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356490(G;T)
Make rs80356490(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position119025299
GeneSLC37A4
is asnp
is mentioned by
dbSNPrs80356490
ebirs80356490
HLIrs80356490
Exacrs80356490
Varsomers80356490
Maprs80356490
PheGenIrs80356490
hapmaprs80356490
1000 genomesrs80356490
hgdprs80356490
ensemblrs80356490
gopubmedrs80356490
geneviewrs80356490
scholarrs80356490
googlers80356490
pharmgkbrs80356490
gwascentralrs80356490
openSNPrs80356490
23andMers80356490
23andMe allrs80356490
SNP Nexus

SNPshotrs80356490
SNPdbers80356490
MSV3drs80356490
GWAS Ctlgrs80356490
Max Magnitude0
OMIM602671
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80356490(T;T)
Alt rs80356490(T;T)
Reference rs80356490(G;G)
Significance Pathogenic
Disease Glucose-6-phosphate transport defect not provided
Variation info
Gene SLC37A4
CLNDBN Glucose-6-phosphate transport defect not provided
Reversed 1
HGVS NC_000011.9:g.118896009C>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000007330.4, RCV000059116.2,


[PMID 9428641] Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib.


[PMID 10482962] The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.


[PMID 10923042] Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients.


[PMID 11949931] Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex.


[PMID 9758626OA-icon.png] A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.