chr17:42909418:G>C Detail (hg38) (G6PC1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr17:41,061,435-41,061,435 View the variant detail on this assembly version.
hg38	chr17:42,909,418-42,909,418

HGVS

G6PC1

Type	Transcript	Protein
RefSeq	NM_000151.3:c.562G>C	NP_000142.2:p.Gly188Arg
	NM_001270397.1:c.485G>C	NP_001257326.1:p.Arg162Thr
Ensemble	ENST00000253801.7:c.562G>C	ENST00000253801.7:p.Gly188Arg
	ENST00000585489.1:c.447-1497G>C
	ENST00000592383.5:c.485G>C	ENST00000592383.5:p.Arg162Thr

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

G6PC1

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	2023-10-13	criteria provided, multiple submitters, no conflicts	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	germline unknown	Detail
Pathogenic	2023-08-27	criteria provided, multiple submitters, no conflicts	not provided	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	Some genotype-phenotype correlations exist, for example, homozygosity for one G6...	UNIPROT	12373566	Detail
0.022	glycogen storage disease	Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage diseas...	BeFree	10960498	Detail
0.006	liver carcinoma	Some genotype-phenotype correlations exist, for example, homozygosity for one G6...	BeFree	12373566	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000151.4(G6PC1):c.562G>C (p.Gly188Arg) AND Glycogen storage disease due to glucose-6-phosphatase ...	ClinVar	Detail
NM_000151.4(G6PC1):c.562G>C (p.Gly188Arg) AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
Some genotype-phenotype correlations exist, for example, homozygosity for one G6PC mutation, G188R, ...	DisGeNET	Detail
Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype.	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: rs80356482 dbSNP
Genome: hg38
Position: chr17:42,909,418-42,909,418
Variant Type: snv
Reference Allele: G
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8654
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): 121410
Allele Counts in All Race (ExAC): 8
Heterozygous Counts in All Race (ExAC): 8
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 6.589243060703402E-5

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