RGD:12791435 Rat Genome Database

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Variant: RGD:12791435 -  Homo sapiens

RGD ID: 12791435
RS ID: rs759031330
ClinVar ID: CV224594
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MTHFR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 11,854,919
GRCh38 1 11,794,862
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
LRG_726t1:c.1033C>T
LRG_726:g.16242C>T
NG_013351.1:g.16242C>T
NC_000001.11:g.11794862G>A
More... 		07/22/2021 missense variant pathogenic|likely pathogenic infancy 5,10-alpha-methylenetetrahydro-folate reductase deficiency; Homocysteinemia due to methylenetetrahydro-folate reductase deficiency; Homocysteinemia due to MTHFR deficiency; Homocysteinuria due to methylenetetrahydro-folate reductase deficiency; HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY; Homocystinuria due to MTHFR deficiency; Methylenetetrahydro-folate reductase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MTHFR
Accession:XM_017001328
Location:EXON

Gene Symbol:MTHFR
Accession:XM_047421179
Location:EXON

Gene Symbol:MTHFR
Accession:XM_005263463
Location:EXON

Gene Symbol:MTHFR
Accession:XM_005263462
Location:EXON

Gene Symbol:MTHFR
Accession:XM_047421178
Location:EXON

Gene Symbol:MTHFR
Accession:NM_005957
Location:EXON

Gene Symbol:
Accession:
Location:EXON

Gene Symbol:MTHFR
Accession:NM_001330358
Location:EXON

Gene Symbol:MTHFR
Accession:XM_047421180
Location:EXON

Gene Symbol:MTHFR
Accession:NM_001410750
Location:EXON

Gene Symbol:MTHFR
Accession:XM_047421181
Location:EXON

Gene Symbol:MTHFR
Accession:XM_011541496
Location:EXON

Gene Symbol:MTHFR
Accession:XM_047421174
Location:EXON

Variant Samples
Additional References at PubMed
PMID:25736335   PMID:25741868   PMID:26872964  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000416797 CLINVAR
dbSNP (RS) rs759031330 CLINVAR
MedGen C1856058 CLINVAR
NCBI Gene MTHFR CLINVAR
OMIM 236250 CLINVAR
  607093 CLINVAR