RGD:152128373 Rat Genome Database

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Variant: RGD:152128373 -  Homo sapiens

RGD ID: 152128373
RS ID: rs375866958
ClinVar ID: CV1554372
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SBF1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 50,893,641
GRCh38 22 50,455,212
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.4479+12G>A
NM_002972.4:c.4554+12G>A
NG_041810.1:g.24860G>A
NC_000022.11:g.50455212C>T
More... 		10/01/2021 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SBF1
Accession:NM_001410795
Location:INTRON

Gene Symbol:SBF1
Accession:NM_001410794
Location:INTRON

Gene Symbol:SBF1
Accession:NM_001365819
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:SBF1
Accession:NM_002972
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002176464 CLINVAR
dbSNP (RS) rs375866958 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SBF1 CLINVAR
OMIM 603560 CLINVAR