RGD:152094654 Rat Genome Database

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Variant: RGD:152094654 -  Homo sapiens

RGD ID: 152094654
RS ID: rs111314962
ClinVar ID: CV1617483
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SBF1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 22 50,885,896
GRCh38 22 50,447,467
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.5452-14G>C
NG_041810.1:g.32605G>C
NC_000022.11:g.50447467C>G
NC_000022.10:g.50885896C>G
More... 		10/06/2021 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SBF1
Accession:NM_002972
Location:INTRON

Gene Symbol:SBF1
Accession:NM_001365819
Location:INTRON

Gene Symbol:SBF1
Accession:NM_001410794
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:SBF1
Accession:NM_001410795
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002114543 CLINVAR
dbSNP (RS) rs111314962 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SBF1 CLINVAR
OMIM 603560 CLINVAR