chr6:131894454:T>C Detail (hg19) (ARG1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:131,894,454-131,894,454 |
| hg38 | chr6:131,573,314-131,573,314 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000045.3:c.32T>C | NP_000036.2:p.Ile11Thr |
| NM_001244438.1:c.32T>C | NP_001231367.1:p.Ile11Thr | |
| Ensemble | ENST00000368087.8:c.32T>C | ENST00000368087.8:p.Ile11Thr |
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
|
2022-09-19 | criteria provided, multiple submitters, no conflicts | Arginase deficiency |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.563 | hyperargininemia | Analysis of novel ARG1 mutations causing hyperargininemia and correlation with a... | UNIPROT | 22959135 | Detail |
| 0.563 | hyperargininemia | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000045.4(ARG1):c.32T>C (p.Ile11Thr) AND Arginase deficiency | ClinVar | Detail |
| Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity i... | 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
- rs28941474 dbSNP
- Genome
- hg19
- Position
- chr6:131,894,454-131,894,454
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- East Asian Allele Frequency (ExAC)
- 0.0
- East Asian Chromosome Counts (ExAC)
- 8632
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- Chromosome Counts in All Race (ExAC)
- 120890
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.271982794275789E-6
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