chr17:41061370:T>G Detail (hg19) (G6PC1)

Information

Genome

Assembly Position
hg19 chr17:41,061,370-41,061,370
hg38 chr17:42,909,353-42,909,353 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001270397.1:c.420T>G NP_001257326.1:p.Cys140Trp
NM_000151.3:c.497T>G NP_000142.2:p.Val166Gly
Ensemble ENST00000585489.1:c.447-1562T>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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 2023-04-12 criteria provided, single submitter Glycogen storage disease due to glucose-6-phosphatase deficiency type IA germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
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.497T>G (p.Val166Gly) AND Glycogen storage disease due to glucose-6-phosphatase ... ClinVar 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
rs104894571 dbSNP
Genome
hg19
Position
chr17:41,061,370-41,061,370
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Genome browser