RGD:28909423 Rat Genome Database

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Variant: RGD:28909423 -  Homo sapiens

RGD ID: 28909423
RS ID: rs1769867725
ClinVar ID: CV896550
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CD2AP  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 47,592,512
GRCh38 6 47,624,776
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_012120.2:c.*549T>C
NM_012120.3:c.*549T>C
NG_008878.1:g.151988T>C
NC_000006.12:g.47624776T>C
More... 		01/13/2018 3 prime utr variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


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

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

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

Gene Symbol:CD2AP
Accession:XM_017010641
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001160608 CLINVAR
dbSNP (RS) rs1769867725 CLINVAR
MedGen C1842982 CLINVAR
NCBI Gene CD2AP CLINVAR
OMIM 604241 CLINVAR
  607832 CLINVAR