rs35067820 Rat Genome Database

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Variant: rs35067820 -  Homo sapiens

RGD ID: 11591882
RS ID: rs35067820
ClinVar ID: CV281179
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MMACHC  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 45,975,156
GRCh38 1 45,509,484
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_013378.1:g.14301A>G
NC_000001.11:g.45509484A>G
NC_000001.10:g.45975156A>G
NM_001330540.2:c.*269A>G
More... 		07/10/2019 3 prime utr variant benign|likely benign 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; 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:3UTRS;EXON

Gene Symbol:MMACHC
Accession:NM_015506
Location:3UTRS;EXON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000333265 CLINVAR
  RCV001553189 CLINVAR
  RCV001828288 CLINVAR
dbSNP (RS) rs35067820 CLINVAR
MedGen C1848561 CLINVAR
  C3661900 CLINVAR
  CN043592 CLINVAR
NCBI Gene MMACHC CLINVAR
OMIM 277400 CLINVAR
  609831 CLINVAR
SNOMED CT 74653006 CLINVAR