chr1:11791235:A>C Detail (hg38) (MTHFR)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:11,851,292-11,851,292 View the variant detail on this assembly version. |
hg38 | chr1:11,791,235-11,791,235 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_005957.4:c.1724T>G | NP_005948.3:p.Val575Gly |
Ensemble | ENST00000376583.7:c.1847T>G | ENST00000376583.7:p.Val616Gly |
ENST00000376585.6:c.1847T>G | ENST00000376585.6:p.Val616Gly |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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no assertion criteria provided | 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.1724T>G (p.Val575Gly) 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
- rs786204031 dbSNP
- Genome
- hg38
- Position
- chr1:11,791,235-11,791,235
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
Genome browser