chrX:78122954:G>A Detail (hg38) (PGK1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chrX:77,378,451-77,378,451 View the variant detail on this assembly version. |
| hg38 | chrX:78,122,954-78,122,954 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000291.3:c.756+5G>A | |
| Ensemble | ENST00000373316.5:c.756+5G>A | |
| ENST00000644362.1:c.672+5G>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
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
|
2006-03-28 | no assertion criteria provided | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency |
germline
|
Detail |
|
Likely pathogenic
|
2023-03-14 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.361 | phosphoglycerate kinase 1 deficiency | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000291.4(PGK1):c.756+5G>A AND Glycogen storage disease due to phosphoglycerate kinase 1 deficienc... | ClinVar | Detail |
| NM_000291.4(PGK1):c.756+5G>A AND not provided | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs431905503 dbSNP
- Genome
- hg38
- Position
- chrX:78,122,954-78,122,954
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser