chr1:11790916:C>T Detail (hg38) (MTHFR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:11,850,973-11,850,973 View the variant detail on this assembly version. |
| hg38 | chr1:11,790,916-11,790,916 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005957.4:c.1753-18G>A | |
| Ensemble | ENST00000376583.7:c.1876-18G>A | |
| ENST00000376585.6:c.1876-18G>A |
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
|
2023-05-23 | criteria provided, single submitter | Homocystinuria due to methylene tetrahydrofolate reductase deficiency |
germline
|
Detail |
|
Pathogenic
|
2023-07-15 | 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.1753-18G>A AND Homocystinuria due to methylene tetrahydrofolate reductase defic... | ClinVar | Detail |
| NM_005957.5(MTHFR):c.1753-18G>A AND Neural tube defects, folate-sensitive | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs777661576 dbSNP
- Genome
- hg38
- Position
- chr1:11,790,916-11,790,916
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8606
- 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)
- 120190
- 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)
- 8.320159747067144E-6
Genome browser