RGD:150427719 Rat Genome Database

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Variant: RGD:150427719 -  Homo sapiens

RGD ID: 150427719
RS ID: rs76498749
ClinVar ID: CV1189013
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SBF1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 22 50,886,233
GRCh38 22 50,447,804
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001365819.1:c.5289-195T>G
NM_002972.4:c.5364-195T>G
NG_041810.1:g.32268T>G
NC_000022.11:g.50447804A>C
More... 		08/03/2018 intron variant likely benign none provided

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

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:SBF1
Accession:NM_001410794
Location:INTRON

Gene Symbol:SBF1
Accession:NM_001365819
Location:INTRON

Gene Symbol:SBF1
Accession:NM_001410795
Location:INTRON

Gene Symbol:SBF1
Accession:NM_002972
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001561300 CLINVAR
dbSNP (RS) rs76498749 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SBF1 CLINVAR
OMIM 603560 CLINVAR