chr17:41063408:C>T Detail (hg19) (G6PC1)

Information

Genome

Assembly Position
hg19 chr17:41,063,408-41,063,408
hg38 chr17:42,911,391-42,911,391 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000151.3:c.1039C>T NP_000142.2:p.Gln347Ter
Ensemble ENST00000253801.7:c.1039C>T ENST00000253801.7:p.Gln347Ter
ENST00000585489.1:c.*431C>T
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 unknown Detail
Pathogenic 2023-02-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2019-05-20 no assertion criteria provided glycogen storage disease germline Detail
Pathogenic 2023-09-12 criteria provided, single submitter G6PC1-related disorder germline Detail
Pathogenic 2021-07-17 criteria provided, single submitter 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
Annotation

Annotations

DescrptionSourceLinks
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter) AND Glycogen storage disease due to glucose-6-phosphatase... ClinVar Detail
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter) AND not provided ClinVar Detail
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter) AND Glycogen storage disease ClinVar Detail
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter) AND G6PC1-related disorder ClinVar Detail
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter) AND not specified ClinVar Detail
NA 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
rs80356487 dbSNP
Genome
hg19
Position
chr17:41,063,408-41,063,408
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8650
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)
120566
Allele Counts in All Race (ExAC)
32
Heterozygous Counts in All Race (ExAC)
32
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.654147935570559E-4
Genome browser