RGD:405031108 Rat Genome Database

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Variant: RGD:405031108 -  Homo sapiens

RGD ID: 405031108
ClinVar ID: CV2979381
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127269043  MMACHC  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 45,966,096
GRCh38 1 45,500,424
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.-142+11C>A
NM_015506.3:c.81+11C>A
NG_013378.2:g.5126C>A
NG_090904.1:g.512C>A
More... 		01/02/2023 intron variant 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; 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:5UTRS;INTRON

Gene Symbol:MMACHC
Accession:NM_015506
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003601775 CLINVAR
MedGen C1848561 CLINVAR
NCBI Gene MMACHC CLINVAR
OMIM 277400 CLINVAR
  609831 CLINVAR
SNOMED CT 74653006 CLINVAR