RGD:11656656 Rat Genome Database

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Variant: RGD:11656656 -  Homo sapiens

RGD ID: 11656656
RS ID: rs886061528
ClinVar ID: CV308025
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CD2AP  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 47,592,453
GRCh38 6 47,624,717
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008878.1:g.151929G>A
NC_000006.12:g.47624717G>A
NC_000006.11:g.47592453G>A
NM_012120.3:c.*490G>A
More... 		06/14/2016 3 prime utr variant uncertain significance Focal sclerosis with hyalinosis; Glomerulosclerosis, focal
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CD2AP
Accession:NM_012120
Location:3UTRS;EXON

Gene Symbol:CD2AP
Accession:XM_005248976
Location:3UTRS;EXON

Gene Symbol:CD2AP
Accession:XM_011514449
Location:3UTRS;EXON

Gene Symbol:CD2AP
Accession:XM_017010641
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000335365 CLINVAR
dbSNP (RS) rs886061528 CLINVAR
MedGen C0017668 CLINVAR
NCBI Gene CD2AP CLINVAR
OMIM 604241 CLINVAR