chr17:41063349:TCT> Detail (hg19) (G6PC1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:41,063,349-41,063,351 |
| hg38 | chr17:42,911,332-42,911,334 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000151.3:c.980_982delTCT | NP_000142.2:p.Phe327del |
| NM_001270397.1:c.*372_*374delTCT | ||
| Ensemble | ENST00000253801.7:c.980_982delTCT | ENST00000253801.7:p.Phe327del |
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
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
Likely pathogenic
|
2023-03-29 | criteria provided, multiple submitters, no conflicts | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
germline
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.123 | Glucose-6-phosphate transport defect | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000151.4(G6PC1):c.980_982del (p.Phe327del) AND Glycogen storage disease due to glucose-6-phosphat... | 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
- rs80356486 dbSNP
- Genome
- hg19
- Position
- chr17:41,063,349-41,063,351
- Variant Type
- snv
- Reference Allele
- TCT
- Alternative Allele
- -
- East Asian Chromosome Counts (ExAC)
- 8652
- 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)
- 121384
- Allele Counts in All Race (ExAC)
- 2
- Heterozygous Counts in All Race (ExAC)
- 2
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.6476636129967705E-5
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