chr1:11863213:AG> Detail (hg19) (MTHFR)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:11,863,213-11,863,214 |
hg38 | chr1:11,803,156-11,803,157 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_005957.4:c.-13-27_-13-28delCT | |
Ensemble | ENST00000376592.6:c.-40_-41delCT | |
ENST00000641407.1:c.-40_-41delCT |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2022-01-13 | criteria provided, single submitter | Homocystinuria due to methylene tetrahydrofolate reductase deficiency |
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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.-13-28_-13-27del AND Homocystinuria due to methylene tetrahydrofolate reductase... | 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
- rs1553188112 dbSNP
- Genome
- hg19
- Position
- chr1:11,863,213-11,863,214
- Variant Type
- snv
- Reference Allele
- AG
- Alternative Allele
- -
Genome browser