RGD:8591116 Rat Genome Database

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Variant: RGD:8591116 -  Homo sapiens

RGD ID: 8591116
RS ID: rs10000250
ClinVar ID: CV131765
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CC2D2A  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 4 15,482,477
GRCh38 4 15,480,853
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001080522.2:c.247+26A>G
NM_020785.2:c.353+26A>G
NG_013035.1:g.15989A>G
NC_000004.12:g.15480853A>G
More... 		07/14/2021 intron|intron variant benign|likely benign|conflicting interpretations of pathogenicity AllHighlyPenetrant; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CC2D2A
Accession:NM_001080522
Location:INTRON

Gene Symbol:CC2D2A
Accession:NM_001378617
Location:INTRON

Gene Symbol:CC2D2A
Accession:NM_001164720
Location:INTRON

Gene Symbol:CC2D2A
Accession:NM_001378615
Location:INTRON

Gene Symbol:CC2D2A
Accession:XM_011513872
Location:INTRON

Gene Symbol:CC2D2A
Accession:XM_011513874
Location:INTRON

Gene Symbol:CC2D2A
Accession:NM_020785
Location:INTRON

Gene Symbol:CC2D2A
Accession:XM_047416010
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000114169 CLINVAR
  RCV001554360 CLINVAR
  RCV001554361 CLINVAR
  RCV001682798 CLINVAR
dbSNP (RS) rs10000250 CLINVAR
MedGen C2676788 CLINVAR
  C2676790 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene CC2D2A CLINVAR
OMIM 612013 CLINVAR
  612284 CLINVAR
  612285 CLINVAR