RGD:150419433 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:150419433 -  Homo sapiens

RGD ID: 150419433
RS ID: rs72946177
ClinVar ID: CV1197162
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CENPE  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 104,098,412
GRCh38 4 103,177,255
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001286734.2:c.1243-209G>A
NM_001813.3:c.1243-209G>A
NG_041798.1:g.26155G>A
NC_000004.12:g.103177255C>T
More...
09/04/2020 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CENPE
Accession:NM_001813
Location:INTRON

Gene Symbol:CENPE
Accession:NM_001286734
Location:INTRON

Gene Symbol:CENPE
Accession:XM_011531544
Location:INTRON

Gene Symbol:CENPE
Accession:XM_011531546
Location:INTRON

Gene Symbol:CENPE
Accession:XM_011531549
Location:INTRON

Gene Symbol:CENPE
Accession:XM_011531545
Location:INTRON

Gene Symbol:CENPE
Accession:XM_011531548
Location:INTRON

Gene Symbol:CENPE
Accession:XM_011531547
Location:INTRON

Gene Symbol:CENPE
Accession:XM_017007659
Location:INTRON

Gene Symbol:CENPE
Accession:XM_047449534
Location:INTRON

Gene Symbol:CENPE
Accession:XM_047449541
Location:INTRON

Gene Symbol:CENPE
Accession:XM_047449533
Location:INTRON

Gene Symbol:CENPE
Accession:XM_047449536
Location:INTRON

Gene Symbol:CENPE
Accession:XM_047449535
Location:INTRON

Gene Symbol:CENPE
Accession:XM_047449540
Location:INTRON

Gene Symbol:CENPE
Accession:XM_047449539
Location:INTRON

Gene Symbol:CENPE
Accession:XM_047449538
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001577179 CLINVAR
dbSNP (RS) rs72946177 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CENPE CLINVAR
OMIM 117143 CLINVAR