chr17:41055964:C>T Detail (hg19) (G6PC1)

Information

Genome

Assembly Position
hg19 chr17:41,055,964-41,055,964
hg38 chr17:42,903,947-42,903,947 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001270397.1:c.247C>T NP_001257326.1:p.Arg83Cys
NM_000151.3:c.247C>T NP_000142.2:p.Arg83Cys
Ensemble ENST00000592383.5:c.247C>T ENST00000592383.5:p.Arg83Cys
Summary

MGeND

Clinical significance
Variant entry
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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-01-29 criteria provided, multiple submitters, no conflicts Glycogen storage disease due to glucose-6-phosphatase deficiency type IA germline inherited unknown Detail
Pathogenic 2016-06-06 criteria provided, single submitter glycogen storage disease germline Detail
Pathogenic 2023-05-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2017-01-01 criteria provided, single submitter unknown Detail
Pathogenic 2024-03-17 criteria provided, multiple submitters, no conflicts not specified germline 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 Glycogen storage disease type Ia (GSD-Ia) is caused by deleterious mutations in ... UNIPROT 15542400 Detail
0.022 glycogen storage disease Characterization of the mutations in the glucose-6-phosphatase gene in Israeli p... BeFree 7623438 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) AND Glycogen storage disease due to glucose-6-phosphatase d... ClinVar Detail
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) AND Glycogen storage disease ClinVar Detail
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) AND not provided ClinVar Detail
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) AND multiple conditions ClinVar Detail
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) AND not specified ClinVar Detail
NA DisGeNET Detail
Glycogen storage disease type Ia (GSD-Ia) is caused by deleterious mutations in the glucose-6-phosph... DisGeNET Detail
Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycoge... 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
rs1801175 dbSNP
Genome
hg19
Position
chr17:41,055,964-41,055,964
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8640
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121294
Allele Counts in All Race (ExAC)
64
Heterozygous Counts in All Race (ExAC)
62
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
5.27643576763896E-4
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