chr1:11802980:C>T Detail (hg38) (MTHFR)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:11,863,037-11,863,037 View the variant detail on this assembly version. |
hg38 | chr1:11,802,980-11,802,980 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_005957.4:c.137G>A | NP_005948.3:p.Arg46Gln |
Ensemble | ENST00000376583.7:c.260G>A | ENST00000376583.7:p.Arg87Gln |
ENST00000376585.6:c.260G>A | ENST00000376585.6:p.Arg87Gln |
Summary
MGeND
Clinical significance |
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Variant entry | 1 |
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 |
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Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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other |
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MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2023-09-01 | criteria provided, multiple submitters, no conflicts | Homocystinuria due to methylene tetrahydrofolate reductase deficiency |
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Detail |
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2023-08-19 | criteria provided, single submitter | Neural tube defects, folate-sensitive |
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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.137G>A (p.Arg46Gln) AND Homocystinuria due to methylene tetrahydrofolate reduct... | ClinVar | Detail |
NM_005957.5(MTHFR):c.137G>A (p.Arg46Gln) AND Neural tube defects, folate-sensitive | 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
- rs776483190 dbSNP
- Genome
- hg38
- Position
- chr1:11,802,980-11,802,980
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8640
- 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)
- 119782
- Allele Counts in All Race (ExAC)
- 3
- Heterozygous Counts in All Race (ExAC)
- 3
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 2.5045499323771517E-5
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