chr17:41055965:G>A Detail (hg19) (G6PC1)

Information

Genome

Assembly Position
hg19 chr17:41,055,965-41,055,965
hg38 chr17:42,903,948-42,903,948 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001270397.1:c.248G>A NP_001257326.1:p.Arg83His
NM_000151.3:c.248G>A NP_000142.2:p.Arg83His
Ensemble ENST00000592383.5:c.248G>A ENST00000592383.5:p.Arg83His
Summary

MGeND

Clinical significance Pathogenic
Variant entry 3
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 613742 OMIM
HGNC 4056 HGNC
Ensembl ENSG00000131482 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
Pathogenic other germline MGS000001
(TMGS000179) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-01-16 criteria provided, multiple submitters, no conflicts Glycogen storage disease due to glucose-6-phosphatase deficiency type IA germline unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.123 Glucose-6-phosphate transport defect NA CLINVAR Detail
0.455 Glycogen Storage Disease Type I Our findings suggest that a screening for the g727t, R170X, and R83H mutations b... BeFree 10748407 Detail
0.455 Glycogen Storage Disease Type I Some genotype-phenotype correlations exist, for example, homozygosity for one G6... UNIPROT 12373566 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000151.4(G6PC1):c.248G>A (p.Arg83His) AND Glycogen storage disease due to glucose-6-phosphatase d... ClinVar Detail
NA DisGeNET Detail
Our findings suggest that a screening for the g727t, R170X, and R83H mutations by simple DNA-based d... DisGeNET Detail
Some genotype-phenotype correlations exist, for example, homozygosity for one G6PC mutation, G188R, ... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1801176 dbSNP
Genome
hg19
Position
chr17:41,055,965-41,055,965
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8640
East Asian Allele Counts (ExAC)
2
East Asian Heterozygous Counts (ExAC)
2
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
2.314814814814815E-4
Chromosome Counts in All Race (ExAC)
121296
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.4732884843688168E-5
Genome browser