chr1:11850365:T>G Detail (hg19) (MTHFR)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:11,850,365-11,850,365 |
hg38 | chr1:11,790,308-11,790,308 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_005957.4:c.*372A>C | |
Ensemble | ENST00000376585.6:c.*372A>C | |
ENST00000376583.7:c.*372A>C |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.803 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:[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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2024-01-22 | 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 |
---|---|---|---|---|---|
0.003 | coronary artery disease | XRCC1 (rs1799782 and rs25487), XRCC3 (rs861539), MTHFR (rs1801133 and rs4846049)... | BeFree | 24315498 | Detail |
<0.001 | coronary artery disease | XRCC1 (rs1799782 and rs25487), XRCC3 (rs861539), MTHFR (rs1801133 and rs4846049)... | BeFree | 24315498 | Detail |
0.126 | Meningomyelocele | In addition, we also show a positive association between the SNP rs4846049 in th... | BeFree | 23227261 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_005957.5(MTHFR):c.*372A>C AND Homocystinuria due to methylene tetrahydrofolate reductase deficien... | ClinVar | Detail |
XRCC1 (rs1799782 and rs25487), XRCC3 (rs861539), MTHFR (rs1801133 and rs4846049), and NQO1 (rs180056... | DisGeNET | Detail |
XRCC1 (rs1799782 and rs25487), XRCC3 (rs861539), MTHFR (rs1801133 and rs4846049), and NQO1 (rs180056... | DisGeNET | Detail |
In addition, we also show a positive association between the SNP rs4846049 in the 3'-untranslated re... | 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
- rs4846049 dbSNP
- Genome
- hg19
- Position
- chr1:11,850,365-11,850,365
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs4846049
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.8029
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 13456
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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