chr1:236816521:G>C Detail (hg38) (MTR)

Information

Genome

Assembly Position
hg19 chr1:236,979,821-236,979,821 View the variant detail on this assembly version.
hg38 chr1:236,816,521-236,816,521

HGVS

Type Transcript Protein
RefSeq NM_000254.2:c.742G>C NP_000245.2:p.Val248Leu
NM_001291939.1:c.742G>C NP_001278868.1:p.Val248Leu
NM_001291940.1:c.742G>C NP_001278869.1:p.Val248Leu
Summary

MGeND

Clinical significance
Variant entry
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
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 156570 OMIM
HGNC 7468 HGNC
Ensembl ENSG00000116984 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.005 obesity We evaluated the relationship between polymorphisms of methylene-tetrahydrofolat... BeFree 17993766 Detail
0.231 obesity We evaluated the relationship between polymorphisms of methylene-tetrahydrofolat... BeFree 17993766 Detail
0.003 obesity We evaluated the relationship between polymorphisms of methylene-tetrahydrofolat... BeFree 17993766 Detail
0.007 congenital heart defects Analyses of the study data provided marginal evidence that the maternal MTR A275... BeFree 19777601 Detail
0.010 congenital heart defects Analyses of the study data provided marginal evidence that the maternal MTR A275... BeFree 19777601 Detail
0.010 coronary artery disease To investigate the association between 3 major polymorphisms in genes encoding e... BeFree 22339686 Detail
<0.001 obesity We evaluated the relationship between polymorphisms of methylene-tetrahydrofolat... BeFree 17993766 Detail
Annotation

Annotations

DescrptionSourceLinks
We evaluated the relationship between polymorphisms of methylene-tetrahydrofolate reductase (MTHFR C... DisGeNET Detail
We evaluated the relationship between polymorphisms of methylene-tetrahydrofolate reductase (MTHFR C... DisGeNET Detail
We evaluated the relationship between polymorphisms of methylene-tetrahydrofolate reductase (MTHFR C... DisGeNET Detail
Analyses of the study data provided marginal evidence that the maternal MTR A2756G (unadjusted p = 0... DisGeNET Detail
Analyses of the study data provided marginal evidence that the maternal MTR A2756G (unadjusted p = 0... DisGeNET Detail
To investigate the association between 3 major polymorphisms in genes encoding enzymes involved in r... DisGeNET Detail
We evaluated the relationship between polymorphisms of methylene-tetrahydrofolate reductase (MTHFR C... 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
-
Genome
hg38
Position
chr1:236,816,521-236,816,521
Variant Type
snv
Reference Allele
G
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
2
East Asian Heterozygous Counts (ExAC)
2
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
2.3110700254217703E-4
Chromosome Counts in All Race (ExAC)
121366
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6479079808183512E-5
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