chr1:236838504:C>T Detail (hg38) (MTR)

Information

Genome

Assembly Position
hg19 chr1:237,001,804-237,001,804 View the variant detail on this assembly version.
hg38 chr1:236,838,504-236,838,504

HGVS

Type Transcript Protein
RefSeq NM_000254.2:c.1420C>T NP_000245.2:p.Leu474=
NM_001291939.1:c.1420C>T NP_001278868.1:p.Leu474=
NM_001291940.1:c.1420C>T NP_001278869.1:p.Leu474=
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 Likely benign
Review star
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
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2023-11-04 criteria provided, single submitter Methylcobalamin deficiency type cblG germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 autistic disorder A total of 138 children diagnosed as autistic based on Diagnostic and Statistica... BeFree 19440165 Detail
0.021 breast carcinoma Based on the hypothesis that variants of the cSHMT C1420T together with methioni... BeFree 17896178 Detail
0.006 Malignant neoplasm of prostate Role of polymorphic variants of MTR gene A2756G and SHMT1 gene C1420T in the dev... BeFree 22803112 Detail
0.005 breast carcinoma Based on the hypothesis that variants of the cSHMT C1420T together with methioni... BeFree 17896178 Detail
0.009 Malignant neoplasm of prostate Role of polymorphic variants of MTR gene A2756G and SHMT1 gene C1420T in the dev... BeFree 22803112 Detail
<0.001 adult acute lymphocytic leukemia Polymorphisms in methionine synthase (MS A2756G), cytosolic serine hydroxymethyl... BeFree 11986237 Detail
0.101 Malignant neoplasm of breast Based on the hypothesis that variants of the cSHMT C1420T together with methioni... BeFree 17896178 Detail
0.028 Malignant neoplasm of breast Based on the hypothesis that variants of the cSHMT C1420T together with methioni... BeFree 17896178 Detail
0.028 Malignant neoplasm of breast In this case-control study, we investigated the association between MTHFR C677T ... BeFree 22134752 Detail
0.005 Lymphoma, Non-Hodgkin The polymorphisms examined and haplotypes generated included thymidylate synthas... BeFree 15198953 Detail
0.007 breast carcinoma In this case-control study, we investigated the association between MTHFR C677T ... BeFree 22134752 Detail
0.128 Lymphoma, Non-Hodgkin The polymorphisms examined and haplotypes generated included thymidylate synthas... BeFree 15198953 Detail
<0.001 Lymphoma, Large-Cell, Follicular The polymorphisms examined and haplotypes generated included thymidylate synthas... BeFree 15198953 Detail
0.005 breast carcinoma In this case-control study, we investigated the association between MTHFR C677T ... BeFree 22134752 Detail
<0.001 Lymphoma, Large-Cell, Follicular The polymorphisms examined and haplotypes generated included thymidylate synthas... BeFree 15198953 Detail
0.035 Malignant neoplasm of breast In this case-control study, we investigated the association between MTHFR C677T ... BeFree 22134752 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000254.3(MTR):c.1420C>T (p.Leu474=) AND Methylcobalamin deficiency type cblG ClinVar Detail
A total of 138 children diagnosed as autistic based on Diagnostic and Statistical Manual of Mental D... DisGeNET Detail
Based on the hypothesis that variants of the cSHMT C1420T together with methionine synthase (MS A275... DisGeNET Detail
Role of polymorphic variants of MTR gene A2756G and SHMT1 gene C1420T in the development of prostati... DisGeNET Detail
Based on the hypothesis that variants of the cSHMT C1420T together with methionine synthase (MS A275... DisGeNET Detail
Role of polymorphic variants of MTR gene A2756G and SHMT1 gene C1420T in the development of prostati... DisGeNET Detail
Polymorphisms in methionine synthase (MS A2756G), cytosolic serine hydroxymethyltransferase (SHMT1 C... DisGeNET Detail
Based on the hypothesis that variants of the cSHMT C1420T together with methionine synthase (MS A275... DisGeNET Detail
Based on the hypothesis that variants of the cSHMT C1420T together with methionine synthase (MS A275... DisGeNET Detail
In this case-control study, we investigated the association between MTHFR C677T and A1298C, TYMS 5'-... DisGeNET Detail
The polymorphisms examined and haplotypes generated included thymidylate synthase (TYMS 28-bp triple... DisGeNET Detail
In this case-control study, we investigated the association between MTHFR C677T and A1298C, TYMS 5'-... DisGeNET Detail
The polymorphisms examined and haplotypes generated included thymidylate synthase (TYMS 28-bp triple... DisGeNET Detail
The polymorphisms examined and haplotypes generated included thymidylate synthase (TYMS 28-bp triple... DisGeNET Detail
In this case-control study, we investigated the association between MTHFR C677T and A1298C, TYMS 5'-... DisGeNET Detail
The polymorphisms examined and haplotypes generated included thymidylate synthase (TYMS 28-bp triple... DisGeNET Detail
In this case-control study, we investigated the association between MTHFR C677T and A1298C, TYMS 5'-... 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
chr1:236,838,504-236,838,504
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8654
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)
121404
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)
1.6473921781819378E-5
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