RGD:15166587 Rat Genome Database

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Variant: RGD:15166587 -  Homo sapiens

RGD ID: 15166587
RS ID: rs373072247
ClinVar ID: CV744398
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CCM2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 45,113,866
GRCh38 7 45,074,267
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001363458.2:c.1039-3C>T
NM_001363459.2:c.865-3C>T
NM_031443.4:c.916-3C>T
NM_001029835.2:c.979-3C>T
More... 		07/13/2018 intron variant likely benign Cerebral cavernous malformations 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CCM2
Accession:XM_006715785
Location:INTRON

Gene Symbol:CCM2
Accession:XM_047420890
Location:INTRON

Gene Symbol:CCM2
Accession:XM_006715786
Location:INTRON

Gene Symbol:CCM2
Accession:XM_017012672
Location:INTRON

Gene Symbol:CCM2
Accession:XM_011515563
Location:INTRON

Gene Symbol:CCM2
Accession:XM_047420889
Location:INTRON

Gene Symbol:CCM2
Accession:NM_001167935
Location:INTRON

Gene Symbol:CCM2
Accession:XM_011515561
Location:INTRON

Gene Symbol:CCM2
Accession:NM_031443
Location:INTRON

Gene Symbol:CCM2
Accession:NM_001167934
Location:INTRON

Gene Symbol:CCM2
Accession:XM_017012671
Location:INTRON

Gene Symbol:CCM2
Accession:NM_001363459
Location:INTRON

Gene Symbol:CCM2
Accession:NM_001029835
Location:INTRON

Gene Symbol:CCM2
Accession:NM_001363458
Location:INTRON

Gene Symbol:CCM2
Accession:NR_030770
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002542077 CLINVAR
dbSNP (RS) rs373072247 CLINVAR
MedGen C1864041 CLINVAR
NCBI Gene CCM2 CLINVAR
OMIM 603284 CLINVAR
  607929 CLINVAR