RGD:150428991 Rat Genome Database

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Variant: RGD:150428991 -  Homo sapiens

RGD ID: 150428991
RS ID: rs778847646
ClinVar ID: CV1189016
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SBF1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 22 50,894,901
GRCh38 22 50,456,472
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.4011+20T>G
NM_002972.4:c.4086+20T>G
NG_041810.1:g.23600T>G
NC_000022.11:g.50456472A>C
More... 		08/21/2019 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SBF1
Accession:NM_001410794
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:SBF1
Accession:NM_002972
Location:INTRON

Gene Symbol:SBF1
Accession:NM_001365819
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:SBF1
Accession:NM_001410795
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001563000 CLINVAR
dbSNP (RS) rs778847646 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SBF1 CLINVAR
OMIM 603560 CLINVAR