chr1:11855248:C>G Detail (hg19) (MTHFR)

Information

Genome

Assembly Position
hg19 chr1:11,855,248-11,855,248
hg38 chr1:11,795,191-11,795,191 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005957.4:c.938G>C NP_005948.3:p.Gly313Ala
Ensemble ENST00000376585.6:c.1061G>C ENST00000376585.6:p.Gly354Ala
ENST00000641820.1:c.203G>C ENST00000641820.1:p.Gly68Ala
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 Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 607093 OMIM
HGNC 7436 HGNC
Ensembl ENSG00000177000 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
Uncertain significance 2021-10-01 no assertion criteria provided vascular dementia germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.014 breast carcinoma Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.102 Malignant neoplasm of breast Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.016 breast carcinoma Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.099 Malignant neoplasm of breast Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.017 Malignant neoplasm of breast Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.096 Malignant neoplasm of breast Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.006 Malignant neoplasm of breast Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.003 breast carcinoma Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.014 Malignant neoplasm of breast Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.021 breast carcinoma Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.017 Malignant neoplasm of breast Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.017 breast carcinoma Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.019 breast carcinoma Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.101 Malignant neoplasm of breast Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.017 breast carcinoma Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.022 breast carcinoma Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005957.5(MTHFR):c.938G>C (p.Gly313Ala) AND Vascular dementia ClinVar Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... 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
rs200890679 dbSNP
Genome
hg19
Position
chr1:11,855,248-11,855,248
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8648
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)
121174
Allele Counts in All Race (ExAC)
21
Heterozygous Counts in All Race (ExAC)
21
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.7330450426659185E-4
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