rs201025783 Rat Genome Database

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Variant: rs201025783 -  Homo sapiens

RGD ID: 13785643
RS ID: rs201025783
ClinVar ID: CV541281
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MMACHC  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 45,974,886
GRCh38 1 45,509,214
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001330540.2:c.677G>C
NM_015506.3:c.848G>C
NM_015506.2:c.848G>C
NG_013378.1:g.14031G>C
More... 		09/16/2020 stop lost likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; Cobalamin-C methylmalonic acidemia and homocystinuria; Methylmalonic acidemia and homocystinuria cblC type; methylmalonic aciduria and homocystinuria type cblC; Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive; Methylmalonic aciduria with homocystinuria cblC type; none provided; Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MMACHC
Accession:NM_001330540
Location:EXON

Gene Symbol:MMACHC
Accession:NM_015506
Location:EXON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26990548   PMID:28492532   PMID:31130284  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000669635 CLINVAR
  RCV000729719 CLINVAR
  RCV000780428 CLINVAR
  RCV001097484 CLINVAR
  RCV001275226 CLINVAR
dbSNP (RS) rs201025783 CLINVAR
MedGen C1848561 CLINVAR
  C3661900 CLINVAR
  CN043592 CLINVAR
  CN169374 CLINVAR
  CN239025 CLINVAR
NCBI Gene MMACHC CLINVAR
OMIM 277400 CLINVAR
  609831 CLINVAR
SNOMED CT 74653006 CLINVAR