RGD:15130137 Rat Genome Database

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Variant: RGD:15130137 -  Homo sapiens

RGD ID: 15130137
RS ID: rs775136816
ClinVar ID: CV774354
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MTHFR  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 11,856,463
GRCh38 1 11,796,406
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_013351.1:g.14698T>C
NC_000001.10:g.11856463A>G
NC_000001.11:g.11796406A>G
NM_005957.4:c.587-7T>C
More... 		12/24/2018 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:XM_017001328
Location:INTRON

Gene Symbol:MTHFR
Accession:XM_047421174
Location:INTRON

Gene Symbol:MTHFR
Accession:XM_047421178
Location:INTRON

Gene Symbol:MTHFR
Accession:XM_005263463
Location:INTRON

Gene Symbol:MTHFR
Accession:XM_047421179
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MTHFR
Accession:XM_011541496
Location:INTRON

Gene Symbol:MTHFR
Accession:NM_001330358
Location:INTRON

Gene Symbol:MTHFR
Accession:XM_047421181
Location:INTRON

Gene Symbol:MTHFR
Accession:XM_005263462
Location:INTRON

Gene Symbol:MTHFR
Accession:XM_047421180
Location:INTRON

Gene Symbol:MTHFR
Accession:NM_001410750
Location:INTRON

Gene Symbol:MTHFR
Accession:NM_005957
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000942001 CLINVAR
dbSNP (RS) rs775136816 CLINVAR
MedGen C1856058 CLINVAR
NCBI Gene MTHFR CLINVAR
OMIM 236250 CLINVAR
  607093 CLINVAR