RGD:152142687 Rat Genome Database

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Variant: RGD:152142687 -  Homo sapiens

RGD ID: 152142687
RS ID: rs1247573172
ClinVar ID: CV1526711
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SBF1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 22 50,902,746
GRCh38 22 50,464,317
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002972.4:c.1749+12G>C
NM_001365819.1:c.1752+12G>C
NG_041810.1:g.15755G>C
NC_000022.11:g.50464317C>G
More... 		08/23/2021 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SBF1
Accession:NM_001365819
Location:INTRON

Gene Symbol:SBF1
Accession:NM_001410795
Location:INTRON

Gene Symbol:SBF1
Accession:NM_002972
Location:INTRON

Gene Symbol:SBF1
Accession:NM_001410794
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002084372 CLINVAR
dbSNP (RS) rs1247573172 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SBF1 CLINVAR
OMIM 603560 CLINVAR