rs769732556 Rat Genome Database

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Variant: rs769732556 -  Homo sapiens

RGD ID: 13785535
RS ID: rs769732556
ClinVar ID: CV541146
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MMACHC  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 45,974,887
GRCh38 1 45,509,215
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.14032A>G
NC_000001.10:g.45974887A>G
NC_000001.11:g.45509215A>G
NP_056321.2:p.Ter283Trp
More... 		02/23/2017 stop lost uncertain significance 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; 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 Information

Database Acc Id Source(s)
ClinVar RCV000665683 CLINVAR
dbSNP (RS) rs769732556 CLINVAR
MedGen C1848561 CLINVAR
NCBI Gene MMACHC CLINVAR
OMIM 277400 CLINVAR
  609831 CLINVAR
SNOMED CT 74653006 CLINVAR