RGD:127286963 Rat Genome Database

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Variant: RGD:127286963 -  Homo sapiens

RGD ID: 127286963
RS ID: rs749256198
ClinVar ID: CV1152942
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SBF1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 50,895,457
GRCh38 22 50,457,028
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.3830-355G>A
NM_002972.4:c.3904+6G>A
NG_041810.1:g.23044G>A
NC_000022.11:g.50457028C>T
More... 		09/22/2021 intron variant uncertain significance none provided

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

Gene Symbol:SBF1
Accession:NM_002972
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:
Accession:
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001507515 CLINVAR
dbSNP (RS) rs749256198 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SBF1 CLINVAR
OMIM 603560 CLINVAR