RGD:12840766 Rat Genome Database

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Variant: RGD:12840766 -  Homo sapiens

RGD ID: 12840766
RS ID: rs1009676697
ClinVar ID: CV367951
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CC2D2A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 15,559,139
GRCh38 4 15,557,516
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_697t1:c.2829+9C>T
NM_001080522.2:c.2829+9C>T
LRG_697:g.92651C>T
NG_013035.1:g.92651C>T
More... 		05/17/2016 intron variant likely benign AllHighlyPenetrant; Cerebelloparenchymal disorder 4; CEREBELLOPARENCHYMAL DISORDER IV; Dysencephalia splachnocystica; DYSENCEPHALIA SPLANCHNOCYSTICA; Gruber syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Meckel-Gruber syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CC2D2A
Accession:XM_011513872
Location:INTRON

Gene Symbol:CC2D2A
Accession:NM_001378615
Location:INTRON

Gene Symbol:CC2D2A
Accession:NM_001164720
Location:INTRON

Gene Symbol:CC2D2A
Accession:XM_011513874
Location:INTRON

Gene Symbol:CC2D2A
Accession:NM_001080522
Location:INTRON

Gene Symbol:CC2D2A
Accession:XM_047416010
Location:INTRON

Gene Symbol:CC2D2A
Accession:NM_020785
Location:INTRON

Gene Symbol:CC2D2A
Accession:NM_001378617
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000431327 CLINVAR
  RCV001467062 CLINVAR
dbSNP (RS) rs1009676697 CLINVAR
MedGen C0431399 CLINVAR
  CN169374 CLINVAR
NCBI Gene CC2D2A CLINVAR
OMIM 213300 CLINVAR
  249000 CLINVAR
  612013 CLINVAR
SNOMED CT 253175003 CLINVAR