RGD:28872347 Rat Genome Database

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Variant: RGD:28872347 -  Homo sapiens

RGD ID: 28872347
RS ID: rs534290000
ClinVar ID: CV896566
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MMUT  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 49,398,814
GRCh38 6 49,431,101
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000255.3:c.*627C>T
NM_000255.4:c.*627C>T
NG_007100.1:g.37039C>T
NC_000006.12:g.49431101G>A
More... 		01/13/2018 3 prime utr variant uncertain significance Methylmalonic aciduria, mut type
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MMUT
Accession:XM_005249143
Location:3UTRS;EXON

Gene Symbol:MMUT
Accession:NM_000255
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001164361 CLINVAR
dbSNP (RS) rs534290000 CLINVAR
MedGen C1855114 CLINVAR
NCBI Gene MMUT CLINVAR
OMIM 251000 CLINVAR
  609058 CLINVAR