chr1:11796313:TGA> Detail (hg38) (MTHFR)

Information

Genome

Assembly Position
hg19 chr1:11,856,370-11,856,372 
hg38 chr1:11,796,313-11,796,315

HGVS

Type Transcript Protein
RefSeq NM_005957.4:c.671_673delTCA NP_005948.3:p.Ile226del
Ensemble ENST00000376583.7:c.794_796delTCA ENST00000376583.7:p.Ile267del
ENST00000376585.6:c.794_796delTCA ENST00000376585.6:p.Ile267del
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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
[No Data.]
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
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
rs786204016 dbSNP
Genome
hg38
Position
chr1:11,796,313-11,796,315
Variant Type
snv
Reference Allele
TGA
Alternative Allele
-
Genome browser