chrX:78123196:T>C Detail (hg38) (PGK1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chrX:77,378,693-77,378,693 View the variant detail on this assembly version. |
| hg38 | chrX:78,123,196-78,123,196 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000291.3:c.758T>C | NP_000282.1:p.Ile253Thr |
| Ensemble | ENST00000373316.5:c.758T>C | ENST00000373316.5:p.Ile253Thr |
| ENST00000644362.1:c.674T>C | ENST00000644362.1:p.Ile225Thr |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Uncertain significance
|
2022-02-02 | criteria provided, single submitter | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | retinitis pigmentosa 10 | An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>... | BeFree | 16671097 | Detail |
| <0.001 | Deficiency of phosphoglycerate kinase | An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>... | BeFree | 16671097 | Detail |
| 0.361 | phosphoglycerate kinase 1 deficiency | An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>... | BeFree | 16671097 | Detail |
| <0.001 | Autosomal dominant retinitis pigmentosa | An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>... | BeFree | 16671097 | Detail |
| <0.001 | Deficiency of phosphoglycerate kinase | An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>... | BeFree | 16671097 | Detail |
| <0.001 | Autosomal dominant retinitis pigmentosa | An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>... | BeFree | 16671097 | Detail |
| <0.001 | retinitis pigmentosa 10 | An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>... | BeFree | 16671097 | Detail |
| 0.005 | Autosomal dominant retinitis pigmentosa | An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>... | BeFree | 16671097 | Detail |
| <0.001 | phosphoglycerate kinase 1 deficiency | An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>... | BeFree | 16671097 | Detail |
| <0.001 | phosphoglycerate kinase 1 deficiency | An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>... | BeFree | 16671097 | Detail |
| 0.121 | Deficiency of phosphoglycerate kinase | An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>... | BeFree | 16671097 | Detail |
| 0.360 | retinitis pigmentosa 10 | An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>... | BeFree | 16671097 | Detail |
| 0.361 | phosphoglycerate kinase 1 deficiency | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000291.4(PGK1):c.758T>C (p.Ile253Thr) AND Glycogen storage disease due to phosphoglycerate kinase... | ClinVar | Detail |
| An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that pro... | DisGeNET | Detail |
| An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that pro... | DisGeNET | Detail |
| An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that pro... | DisGeNET | Detail |
| An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that pro... | DisGeNET | Detail |
| An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that pro... | DisGeNET | Detail |
| An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that pro... | DisGeNET | Detail |
| An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that pro... | DisGeNET | Detail |
| An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that pro... | DisGeNET | Detail |
| An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that pro... | DisGeNET | Detail |
| An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that pro... | DisGeNET | Detail |
| An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that pro... | DisGeNET | Detail |
| An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that pro... | DisGeNET | 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
- rs137852534 dbSNP
- Genome
- hg38
- Position
- chrX:78,123,196-78,123,196
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
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