RGD:11596796 Rat Genome Database

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Variant: RGD:11596796 -  Homo sapiens

RGD ID: 11596796
RS ID: rs530055437
ClinVar ID: CV298315
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SH3BP2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 2,838,478
GRCh38 4 2,836,751
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NM_003023.4:c.*2917C>T
NG_011609.1:g.48729C>T
NC_000004.12:g.2836751C>T
NC_000004.11:g.2838478C>T
More... 		06/14/2016 3 prime utr variant likely benign childhood Cherubism
Disease Annotations     Click to see Annotation Detail View
cherubism  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:SH3BP2
Accession:NM_001122681
Location:3UTRS;EXON

Gene Symbol:SH3BP2
Accession:NM_001145855
Location:3UTRS;EXON

Gene Symbol:SH3BP2
Accession:NM_003023
Location:3UTRS;EXON

Gene Symbol:SH3BP2
Accession:NM_001145856
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000386785 CLINVAR
dbSNP (RS) rs530055437 CLINVAR
MedGen C0008029 CLINVAR
NCBI Gene SH3BP2 CLINVAR
OMIM 118400 CLINVAR
  602104 CLINVAR
SNOMED CT 76098004 CLINVAR