RGD:152130038 Rat Genome Database

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Variant: RGD:152130038 -  Homo sapiens

RGD ID: 152130038
RS ID: rs776833887
ClinVar ID: CV1539064
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: APOA1  APOA1-AS  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 116,707,893
GRCh38 11 116,837,177
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001318021.1:c.-240-64G>A
NM_000039.3:c.44-20G>A
NM_001318017.2:c.44-20G>A
NM_001318018.2:c.44-20G>A
More... 		07/25/2021 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:APOA1
Accession:NM_001318021
Location:5UTRS;INTRON

Gene Symbol:APOA1
Accession:XM_047426866
Location:INTRON

Gene Symbol:APOA1
Accession:NM_000039
Location:INTRON

Gene Symbol:APOA1
Accession:NM_001318017
Location:INTRON

Gene Symbol:APOA1
Accession:NM_001318018
Location:INTRON

Gene Symbol:APOA1-AS
Accession:NR_126362
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002217943 CLINVAR
dbSNP (RS) rs776833887 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene APOA1 CLINVAR
  APOA1-AS CLINVAR
OMIM 107680 CLINVAR
  620112 CLINVAR