chr1:11792304:C>A Detail (hg38) (MTHFR)

Information

Genome

Assembly Position
hg19 chr1:11,852,361-11,852,361 View the variant detail on this assembly version.
hg38 chr1:11,792,304-11,792,304

HGVS

Type Transcript Protein
RefSeq NM_005957.4:c.1606G>T NP_005948.3:p.Val536Phe
Ensemble ENST00000376583.7:c.1729G>T ENST00000376583.7:p.Val577Phe
ENST00000376585.6:c.1729G>T ENST00000376585.6:p.Val577Phe
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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 2022-03-29 criteria provided, single submitter Homocystinuria due to methylene tetrahydrofolate reductase deficiency germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.362 HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005957.5(MTHFR):c.1606G>T (p.Val536Phe) AND Homocystinuria due to methylene tetrahydrofolate redu... 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
rs786204028 dbSNP
Genome
hg38
Position
chr1:11,792,304-11,792,304
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser