RGD:10448799 Rat Genome Database

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Variant: RGD:10448799 -  Homo sapiens

RGD ID: 10448799
RS ID: rs863225181
ClinVar ID: CV214181
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CC2D2A  LOC124900671  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 15,572,124
GRCh38 4 15,570,501
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_697t1:c.3594+5G>A
NM_001080522.2:c.3594+5G>A
LRG_697:g.105636G>A
NG_013035.1:g.105636G>A
More... 		11/17/2015 intron variant likely pathogenic|uncertain significance infancy|neonatal <1 / 1 000 000 Cerebelloparenchymal disorder 4; CEREBELLOPARENCHYMAL DISORDER IV; Dysencephalia splachnocystica; DYSENCEPHALIA SPLANCHNOCYSTICA; Gruber syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Meckel-Gruber syndrome; 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_020785
Location:INTRON

Gene Symbol:CC2D2A
Accession:NM_001378615
Location:INTRON

Gene Symbol:CC2D2A
Accession:XM_047416010
Location:INTRON

Gene Symbol:CC2D2A
Accession:NM_001164720
Location:INTRON

Gene Symbol:CC2D2A
Accession:XM_011513872
Location:INTRON

Gene Symbol:CC2D2A
Accession:NM_001378617
Location:INTRON

Gene Symbol:CC2D2A
Accession:XM_011513874
Location:INTRON

Gene Symbol:LOC124900671
Accession:XR_007058061
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:26092869   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000201770 CLINVAR
  RCV000319494 CLINVAR
  RCV001853234 CLINVAR
dbSNP (RS) rs863225181 CLINVAR
MedGen C0431399 CLINVAR
  C2676788 CLINVAR
  CN517202 CLINVAR
NCBI Gene CC2D2A CLINVAR
OMIM 213300 CLINVAR
  249000 CLINVAR
  612013 CLINVAR
  612285 CLINVAR
SNOMED CT 253175003 CLINVAR