RGD:28887917 Rat Genome Database

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Variant: RGD:28887917 -  Homo sapiens

RGD ID: 28887917
RS ID: rs774118431
ClinVar ID: CV903285
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCA1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 107,620,791
GRCh38 9 104,858,510
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005502.4:c.720+12T>C
NG_007981.1:g.74646T>C
NC_000009.12:g.104858510A>G
NC_000009.11:g.107620791A>G
More... 		01/13/2018 intron variant likely benign|uncertain significance A-alphalipoprotein neuropathy; Alpha high density lipoprotein deficiency disease; Analphalipo-proteinemia; Cholesterol thesaurismosis; Familial high density lipoprotein deficiency disease; Familial Hypoalphalipo-proteinemia; Hdl lipoprotein deficiency disease; High density lipoprotein deficiency, Tangier type; High density lipoprotein deficiency, type 1; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ABCA1
Accession:NM_005502
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001169476 CLINVAR
  RCV001169477 CLINVAR
  RCV002068042 CLINVAR
dbSNP (RS) rs774118431 CLINVAR
MedGen C0039292 CLINVAR
  C3661900 CLINVAR
  C5231558 CLINVAR
NCBI Gene ABCA1 CLINVAR
OMIM 205400 CLINVAR
  600046 CLINVAR
  604091 CLINVAR