RGD:28891080 Rat Genome Database

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Variant: RGD:28891080 -  Homo sapiens

RGD ID: 28891080
RS ID: rs201961945
ClinVar ID: CV887365
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCG8  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 44,078,975
GRCh38 2 43,851,836
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1182t1:c.561+14C>T
NC_000002.11:g.44078975C>T
NM_001357321.2:c.561+14C>T
NG_008884.2:g.24895C>T
More... 		08/11/2021 intron variant benign|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ABCG8
Accession:NM_001357321
Location:INTRON

Gene Symbol:ABCG8
Accession:NM_022437
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001139255 CLINVAR
  RCV002070650 CLINVAR
dbSNP (RS) rs201961945 CLINVAR
MedGen C2749759 CLINVAR
  C3661900 CLINVAR
NCBI Gene ABCG8 CLINVAR
OMIM 210250 CLINVAR
  605460 CLINVAR