RGD:13539255 Rat Genome Database

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Variant: RGD:13539255 -  Homo sapiens

RGD ID: 13539255
RS ID: rs199886805
ClinVar ID: CV502012
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MMUT  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 49,412,342
GRCh38 6 49,444,629
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007100.1:g.23511T>C
NC_000006.12:g.49444629A>G
NC_000006.11:g.49412342A>G
NM_000255.4:c.1676+10T>C
More... 		05/22/2017 intron variant likely benign AllHighlyPenetrant; Methylmalonic aciduria, mut type; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MMUT
Accession:NM_000255
Location:INTRON

Gene Symbol:MMUT
Accession:XM_005249143
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000613027 CLINVAR
  RCV001481925 CLINVAR
  RCV002491254 CLINVAR
dbSNP (RS) rs199886805 CLINVAR
MedGen C1855114 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene MUT CLINVAR
OMIM 251000 CLINVAR
  609058 CLINVAR