chr1:11853978:A>C Detail (hg19) (MTHFR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:11,853,978-11,853,978 |
| hg38 | chr1:11,793,921-11,793,921 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005957.4:c.1516T>G | NP_005948.3:p.Tyr506Asp |
| Ensemble | ENST00000376585.6:c.1639T>G | ENST00000376585.6:p.Tyr547Asp |
| ENST00000376583.7:c.1639T>G | ENST00000376583.7:p.Tyr547Asp |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2021-11-05 | criteria provided, single submitter | Homocystinuria due to methylene tetrahydrofolate reductase deficiency |
germline
|
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.1516T>G (p.Tyr506Asp) AND Homocystinuria due to methylene tetrahydrofolate redu... | ClinVar | 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
- rs786204026 dbSNP
- Genome
- hg19
- Position
- chr1:11,853,978-11,853,978
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
Genome browser