RGD:13833714 Rat Genome Database

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Variant: RGD:13833714 -  Homo sapiens

RGD ID: 13833714
RS ID: rs568899040
ClinVar ID: CV584952
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCG8  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 44,099,452
GRCh38 2 43,872,313
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001357321.2:c.1208+7A>T
NG_008884.2:g.45372A>T
LRG_1182t1:c.1211+7A>T
LRG_1182:g.45372A>T
More... 		05/31/2022 intron variant conflicting interpretations of pathogenicity|uncertain significance none provided

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 RCV000729057 CLINVAR
dbSNP (RS) rs568899040 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ABCG8 CLINVAR
OMIM 605460 CLINVAR