chr1:11802980:C>T Detail (hg38) (MTHFR)

Information

Genome

Assembly Position
hg19 chr1:11,863,037-11,863,037 View the variant detail on this assembly version.
hg38 chr1:11,802,980-11,802,980

HGVS

Type Transcript Protein
RefSeq NM_005957.4:c.137G>A NP_005948.3:p.Arg46Gln
Ensemble ENST00000376583.7:c.260G>A ENST00000376583.7:p.Arg87Gln
ENST00000376585.6:c.260G>A ENST00000376585.6:p.Arg87Gln
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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 pathogenic
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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2023-09-01 criteria provided, multiple submitters, no conflicts Homocystinuria due to methylene tetrahydrofolate reductase deficiency germline Detail
Likely pathogenic 2023-08-19 criteria provided, single submitter Neural tube defects, folate-sensitive unknown 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

DescrptionSourceLinks
NM_005957.5(MTHFR):c.137G>A (p.Arg46Gln) AND Homocystinuria due to methylene tetrahydrofolate reduct... ClinVar Detail
NM_005957.5(MTHFR):c.137G>A (p.Arg46Gln) AND Neural tube defects, folate-sensitive 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
rs776483190 dbSNP
Genome
hg38
Position
chr1:11,802,980-11,802,980
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8640
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)
119782
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.5045499323771517E-5
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