RGD:12913703 Rat Genome Database

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Variant: RGD:12913703 -  Homo sapiens

RGD ID: 12913703
RS ID: rs200904521
ClinVar ID: CV421481
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CC2D2A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 15,556,832
GRCh38 4 15,555,209
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.2624C>T
LRG_697t1:c.2624C>T
LRG_697:g.90344C>T
NG_013035.1:g.90344C>T
More... 		10/31/2018 missense variant uncertain significance Cerebelloparenchymal disorder 4; CEREBELLOPARENCHYMAL DISORDER IV; Dysencephalia splachnocystica; DYSENCEPHALIA SPLANCHNOCYSTICA; Gruber syndrome; Joubert syndrome; Joubert syndrome 9; Joubert-Boltshauser syndrome; Meckel syndrome, type 6; Meckel-Gruber syndrome; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CC2D2A
Accession:NM_001378617
Location:EXON

Gene Symbol:CC2D2A
Accession:NM_001080522
Location:EXON

Gene Symbol:CC2D2A
Accession:XM_011513872
Location:EXON

Gene Symbol:CC2D2A
Accession:XM_047416010
Location:EXON

Gene Symbol:CC2D2A
Accession:NM_001378615
Location:EXON

Gene Symbol:CC2D2A
Accession:NM_020785
Location:INTRON

Gene Symbol:CC2D2A
Accession:NM_001164720
Location:INTRON

Gene Symbol:CC2D2A
Accession:XM_011513874
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000732739 CLINVAR
  RCV000765758 CLINVAR
  RCV001144149 CLINVAR
  RCV001144150 CLINVAR
  RCV001316067 CLINVAR
dbSNP (RS) rs200904521 CLINVAR
MedGen C0431399 CLINVAR
  C2676788 CLINVAR
  C2676790 CLINVAR
  C3661900 CLINVAR
  C5435651 CLINVAR
NCBI Gene CC2D2A CLINVAR
OMIM 213300 CLINVAR
  216360 CLINVAR
  249000 CLINVAR
  612013 CLINVAR
  612284 CLINVAR
  612285 CLINVAR
SNOMED CT 253175003 CLINVAR