RGD:38597794 Rat Genome Database

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Variant: RGD:38597794 -  Homo sapiens

RGD ID: 38597794
RS ID: rs748397580
ClinVar ID: CV964643
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MTHFR  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 11,861,217
GRCh38 1 11,801,160
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.9944G>T
NC_000001.11:g.11801160C>A
NC_000001.10:g.11861217C>A
NM_001330358.2:c.598+1G>T
More... 		01/22/2024 splice donor variant pathogenic|likely pathogenic 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; NTD, FOLATE-SENSITIVE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MTHFR
Accession:XM_047421181
Location:INTRON

Gene Symbol:MTHFR
Accession:XM_005263462
Location:INTRON

Gene Symbol:MTHFR
Accession:XM_005263463
Location:INTRON

Gene Symbol:MTHFR
Accession:XM_011541496
Location:INTRON

Gene Symbol:MTHFR
Accession:XM_047421180
Location:INTRON

Gene Symbol:MTHFR
Accession:XM_047421178
Location:INTRON

Gene Symbol:MTHFR
Accession:NM_001410750
Location:INTRON

Gene Symbol:MTHFR
Accession:XM_047421174
Location:INTRON

Gene Symbol:MTHFR
Accession:XM_047421179
Location:INTRON

Gene Symbol:MTHFR
Accession:NM_005957
Location:INTRON

Gene Symbol:MTHFR
Accession:XM_017001328
Location:INTRON

Gene Symbol:MTHFR
Accession:NM_001330358
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:25736335   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001253140 CLINVAR
  RCV003462834 CLINVAR
dbSNP (RS) rs748397580 CLINVAR
MedGen C1856058 CLINVAR
  C1866558 CLINVAR
NCBI Gene MTHFR CLINVAR
OMIM 236250 CLINVAR
  601634 CLINVAR
  607093 CLINVAR