RGD:127259860 Rat Genome Database

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Variant: RGD:127259860 -  Homo sapiens

RGD ID: 127259860
RS ID: rs776084278
ClinVar ID: CV1066097
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC129660093  MTHFR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 11,851,390
GRCh38 1 11,791,333
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005957.5:c.1633-7C>T
NM_001330358.2:c.1756-7C>T
LRG_726:g.19771C>T
NG_013351.1:g.19771C>T
More... 		03/20/2019 intron variant likely benign 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:NM_001410750
Location:INTRON

Gene Symbol:MTHFR
Accession:XM_047421179
Location:INTRON

Gene Symbol:MTHFR
Accession:XM_047421180
Location:INTRON

Gene Symbol:MTHFR
Accession:XM_005263462
Location:INTRON

Gene Symbol:MTHFR
Accession:NM_001330358
Location:INTRON

Gene Symbol:MTHFR
Accession:XM_005263463
Location:INTRON

Gene Symbol:MTHFR
Accession:XM_047421178
Location:INTRON

Gene Symbol:MTHFR
Accession:XM_047421181
Location:INTRON

Gene Symbol:MTHFR
Accession:XM_011541496
Location:INTRON

Gene Symbol:MTHFR
Accession:NM_005957
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MTHFR
Accession:XM_017001328
Location:INTRON

Gene Symbol:MTHFR
Accession:XM_047421174
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001419925 CLINVAR
dbSNP (RS) rs776084278 CLINVAR
MedGen C1856058 CLINVAR
NCBI Gene MTHFR CLINVAR
OMIM 236250 CLINVAR
  607093 CLINVAR