RGD:11597772 Rat Genome Database

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Variant: RGD:11597772 -  Homo sapiens

RGD ID: 11597772
RS ID: rs28517482
ClinVar ID: CV286334
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCG8  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 44,101,538
GRCh38 2 43,874,399
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000002.12:g.43874399C>T
NC_000002.11:g.44101538C>T
NM_022437.3:c.1412-8C>T
NG_008884.2:g.47458C>T
More... 		07/14/2021 intron variant benign all ages <1 / 1 000 000 AllHighlyPenetrant; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ABCG8
Accession:NM_022437
Location:INTRON

Gene Symbol:ABCG8
Accession:NM_001357321
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000397660 CLINVAR
  RCV000734873 CLINVAR
  RCV001515082 CLINVAR
dbSNP (RS) rs28517482 CLINVAR
MedGen C2749759 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene ABCG8 CLINVAR
OMIM 210250 CLINVAR
  605460 CLINVAR