RGD:11656769 Rat Genome Database

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Variant: RGD:11656769 -  Homo sapiens

RGD ID: 11656769
RS ID: rs886061552
ClinVar ID: CV307925
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MMUT  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 49,398,455
GRCh38 6 49,430,742
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000255.4:c.*986G>A
NM_000255.3:c.*986G>A
NG_007100.1:g.37398G>A
NC_000006.12:g.49430742C>T
More... 		06/14/2016 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:NM_000255
Location:3UTRS;EXON

Gene Symbol:MMUT
Accession:XM_005249143
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000336330 CLINVAR
dbSNP (RS) rs886061552 CLINVAR
MedGen C1855114 CLINVAR
NCBI Gene MUT CLINVAR
OMIM 251000 CLINVAR
  609058 CLINVAR