RGD:150431747 Rat Genome Database

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Variant: RGD:150431747 -  Homo sapiens

RGD ID: 150431747
RS ID: rs2076714
ClinVar ID: CV1236511
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SBF1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 50,903,221
GRCh38 22 50,464,792
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.1431+27G>A
NC_000022.10:g.50903221C>T
NM_001365819.1:c.1434+27G>A
NG_041810.1:g.15280G>A
More... 		07/06/2018 intron variant benign Charcot-Marie-Tooth Neuropathy Type 4B3; none provided
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:SBF1
Accession:NM_001365819
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:SBF1
Accession:NM_001410795
Location:INTRON

Gene Symbol:SBF1
Accession:NM_002972
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001641915 CLINVAR
  RCV001796643 CLINVAR
dbSNP (RS) rs2076714 CLINVAR
MedGen C3661900 CLINVAR
  C3695063 CLINVAR
NCBI Gene SBF1 CLINVAR
OMIM 603560 CLINVAR
  615284 CLINVAR