chr1:11794540:T> Detail (hg38) (MTHFR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:11,854,597-11,854,597 |
| hg38 | chr1:11,794,540-11,794,540 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005957.4:c.1167-2delA | |
| Ensemble | ENST00000376583.7:c.1290-2delA | |
| ENST00000376585.6:c.1290-2delA |
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
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2023-07-29 | criteria provided, single submitter | Homocystinuria due to methylene tetrahydrofolate reductase deficiency |
germline
|
Detail |
|
Pathogenic
|
2023-05-12 | criteria provided, single submitter | Neural tube defects, folate-sensitive |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.362 | HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_005957.5(MTHFR):c.1167-2del AND Homocystinuria due to methylene tetrahydrofolate reductase defici... | ClinVar | Detail |
| NM_005957.5(MTHFR):c.1167-2del AND Neural tube defects, folate-sensitive | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs780014899 dbSNP
- Genome
- hg38
- Position
- chr1:11,794,540-11,794,540
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- -
- East Asian Chromosome Counts (ExAC)
- 8650
- 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)
- 120808
- 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)
- 8.277597510098669E-6
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