RGD:15167818 Rat Genome Database

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Variant: RGD:15167818 -  Homo sapiens

RGD ID: 15167818
RS ID: rs200605915
ClinVar ID: CV744056
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RUBCN  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 197,402,391
GRCh38 3 197,675,520
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_014687.4:c.2647-5C>T
NG_034153.2:g.79180C>T
NC_000003.12:g.197675520G>A
NC_000003.11:g.197402391G>A
More...
05/18/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:RUBCN
Accession:NM_001145642
Location:INTRON

Gene Symbol:RUBCN
Accession:NM_014687
Location:INTRON

Gene Symbol:RUBCN
Accession:XM_005269374
Location:INTRON

Gene Symbol:RUBCN
Accession:XM_006713831
Location:INTRON

Gene Symbol:RUBCN
Accession:XM_006713827
Location:INTRON

Gene Symbol:RUBCN
Accession:XM_006713828
Location:INTRON

Gene Symbol:RUBCN
Accession:XM_017007543
Location:INTRON

Gene Symbol:RUBCN
Accession:NM_001346873
Location:INTRON

Gene Symbol:RUBCN
Accession:XM_047449268
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000904727 CLINVAR
dbSNP (RS) rs200605915 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene RUBCN CLINVAR
OMIM 613516 CLINVAR