RGD:13516752 Rat Genome Database

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Variant: RGD:13516752 -  Homo sapiens

RGD ID: 13516752
RS ID: rs934115584
ClinVar ID: CV491366
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCG8  LOC102725159  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 44,071,644
GRCh38 2 43,844,505
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000002.11:g.44071644A>G
NC_000002.12:g.43844505A>G
NM_022437.3:c.64-2A>G
NG_008884.2:g.17564A>G
More...
07/29/2023 splice acceptor variant pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:LOC102725159
Accession:XR_940032
Location:EXON;NON-CODING

Gene Symbol:ABCG8
Accession:NM_022437
Location:INTRON

Gene Symbol:ABCG8
Accession:NM_001357321
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:11452359   PMID:15375183   PMID:16029460   PMID:16199547   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000595922 CLINVAR
dbSNP (RS) rs934115584 CLINVAR
MedGen C3661900 CLINVAR
  CN517202 CLINVAR
NCBI Gene ABCG8 CLINVAR
OMIM 605460 CLINVAR