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 Benign
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 tgv379958 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-01-22 criteria provided, single submitter Homocystinuria due to methylene tetrahydrofolate reductase deficiency germline 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

DescrptionSourceLinks
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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