RGD:13528201 Rat Genome Database

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Variant: RGD:13528201 -  Homo sapiens

RGD ID: 13528201
RS ID: rs957176669
ClinVar ID: CV496703
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCG8  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 44,099,114
GRCh38 2 43,871,975
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000002.12:g.43871975G>A
NC_000002.11:g.44099114G>A
NM_001357321.2:c.965-1G>A
NM_022437.3:c.965-1G>A
More... 		11/21/2017 splice acceptor variant likely pathogenic Phytosterolemia; Plant sterol storage disease; Retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body
Disease Annotations     Click to see Annotation Detail View
sitosterolemia  (IAGP)


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:24033266   PMID:28739549  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000602419 CLINVAR
dbSNP (RS) rs957176669 CLINVAR
MedGen C0342907 CLINVAR
NCBI Gene ABCG8 CLINVAR
OMIM 210250 CLINVAR
  605460 CLINVAR
SNOMED CT 238104009 CLINVAR