chr17:42909364:C>T Detail (hg38) (G6PC1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:41,061,381-41,061,381 View the variant detail on this assembly version. |
| hg38 | chr17:42,909,364-42,909,364 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000151.3:c.508C>T | NP_000142.2:p.Arg170Ter |
| NM_001270397.1:c.431C>T | NP_001257326.1:p.Thr144Met | |
| Ensemble | ENST00000253801.7:c.508C>T | ENST00000253801.7:p.Arg170Ter |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 4 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:<0.001 | |
| 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 | |
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
|
2023-10-13 | criteria provided, multiple submitters, no conflicts | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
germline
unknown
|
Detail |
|
Pathogenic
|
no assertion criteria provided | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.455 | Glycogen Storage Disease Type I | Our findings suggest that a screening for the g727t, R170X, and R83H mutations b... | BeFree | 10748407 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000151.4(G6PC1):c.508C>T (p.Arg170Ter) AND Glycogen storage disease due to glucose-6-phosphatase ... | ClinVar | Detail |
| NM_000151.4(G6PC1):c.508C>T (p.Arg170Ter) AND not provided | ClinVar | Detail |
| Our findings suggest that a screening for the g727t, R170X, and R83H mutations by simple DNA-based d... | 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
- rs373345919 dbSNP
- Genome
- hg38
- Position
- chr17:42,909,364-42,909,364
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs373345919
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0002
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 3
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- 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)
- 121412
- 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)
- 2.470925443942938E-5
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