RGD:8591129 Rat Genome Database

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Variant: RGD:8591129 -  Homo sapiens

RGD ID: 8591129
RS ID: rs16892080
ClinVar ID: CV131778
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CC2D2A  LOC124900672  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 15,512,845
GRCh38 4 15,511,222
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.541-25G>T
NG_013035.1:g.46357G>T
NC_000004.12:g.15511222G>T
NC_000004.11:g.15512845G>T
More... 		06/26/2018 intron|intron variant benign|likely benign|conflicting interpretations of pathogenicity AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:CC2D2A
Accession:NM_001378615
Location:INTRON

Gene Symbol:CC2D2A
Accession:XM_011513874
Location:INTRON

Gene Symbol:CC2D2A
Accession:NM_001164720
Location:INTRON

Gene Symbol:CC2D2A
Accession:XM_047416010
Location:INTRON

Gene Symbol:CC2D2A
Accession:XM_011513872
Location:INTRON

Gene Symbol:CC2D2A
Accession:NM_001378617
Location:INTRON

Gene Symbol:CC2D2A
Accession:NM_001080522
Location:INTRON

Gene Symbol:CC2D2A
Accession:NM_020785
Location:INTRON

Gene Symbol:LOC124900672
Accession:XR_007058062
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000114182 CLINVAR
  RCV001668218 CLINVAR
dbSNP (RS) rs16892080 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene CC2D2A CLINVAR
OMIM 612013 CLINVAR