RGD:10050479 Rat Genome Database

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Variant: RGD:10050479 -  Homo sapiens

RGD ID: 10050479
RS ID: rs143681243
ClinVar ID: CV191981
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CC2D2A  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 15,542,644
GRCh38 4 15,541,021
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.2181+7A>C
NG_013035.1:g.76156A>C
NC_000004.12:g.15541021A>C
NC_000004.11:g.15542644A>C
More... 		12/31/2019 intron variant benign|likely benign|uncertain significance AllHighlyPenetrant; Cerebelloparenchymal disorder 4; CEREBELLOPARENCHYMAL DISORDER IV; COACH syndrome 2; Dysencephalia splachnocystica; DYSENCEPHALIA SPLANCHNOCYSTICA; Gruber syndrome; Joubert syndrome; Joubert syndrome 9; Joubert-Boltshauser syndrome; Meckel-Gruber syndrome; none provided; Retinitis pigmentosa 93
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CC2D2A
Accession:XM_047416010
Location:INTRON

Gene Symbol:CC2D2A
Accession:NM_001164720
Location:INTRON

Gene Symbol:CC2D2A
Accession:XM_011513874
Location:INTRON

Gene Symbol:CC2D2A
Accession:NM_001378617
Location:INTRON

Gene Symbol:CC2D2A
Accession:NM_001080522
Location:INTRON

Gene Symbol:CC2D2A
Accession:XM_011513872
Location:INTRON

Gene Symbol:CC2D2A
Accession:NM_001378615
Location:INTRON

Gene Symbol:CC2D2A
Accession:NM_020785
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000175279 CLINVAR
  RCV000840949 CLINVAR
  RCV001088025 CLINVAR
  RCV002500477 CLINVAR
  RCV003965262 CLINVAR
dbSNP (RS) rs143681243 CLINVAR
MedGen C0431399 CLINVAR
  C2676790 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene CC2D2A CLINVAR
OMIM 213300 CLINVAR
  249000 CLINVAR
  612013 CLINVAR
  612284 CLINVAR
  612285 CLINVAR
  619111 CLINVAR
  619845 CLINVAR
SNOMED CT 253175003 CLINVAR