chr1:115236057:G>A Detail (hg19) (AMPD1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:115,236,057-115,236,057 |
| hg38 | chr1:114,693,436-114,693,436 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001172626.1:c.22+2014C>T | |
| NM_000036.2:c.34C>T | NP_000027.2:p.Gln12Ter | |
| Ensemble | ENST00000369538.4:c.22+2014C>T |
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 | Conflicting classifications of pathogenicity; other |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Conflicting interpretations of pathogenicity
|
2022-11-02 | criteria provided, conflicting interpretations | Muscle AMP deaminase deficiency |
germline
unknown
|
Detail |
| Conflicting interpretations of pathogenicity; other | 2024-04-01 | criteria provided, conflicting interpretations | not provided |
germline
unknown
|
Detail |
Uncertain significance
|
2023-03-13 | criteria provided, single submitter | not specified |
germline
|
Detail |
Likely benign
|
2023-12-01 | criteria provided, single submitter | AMPD1-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.241 | Muscle AMP deaminase deficiency | NA | CLINVAR | Detail | |
| 0.003 | Metabolic syndrome X | [Association of C34T AMPD1 gene polymorphism with features of metabolic syndrome... | GAD | 18855224 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter) AND Muscle AMP deaminase deficiency | ClinVar | Detail |
| NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter) AND not provided | ClinVar | Detail |
| NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter) AND not specified | ClinVar | Detail |
| NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter) AND AMPD1-related disorder | ClinVar | Detail |
| NA | DisGeNET | Detail |
| [Association of C34T AMPD1 gene polymorphism with features of metabolic syndrome in patients with co... | 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
- rs17602729 dbSNP
- Genome
- hg19
- Position
- chr1:115,236,057-115,236,057
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- 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)
- 121218
- Allele Counts in All Race (ExAC)
- 10563
- Heterozygous Counts in All Race (ExAC)
- 9241
- Homozygous Counts in All Race (ExAC)
- 661
- Allele Frequency in All Race (ExAC)
- 0.0871405236846013
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