RGD:11605168 Rat Genome Database

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Variant: RGD:11605168 -  Homo sapiens

RGD ID: 11605168
RS ID: rs41415046
ClinVar ID: CV315818
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCA1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 107,564,328
GRCh38 9 104,802,047
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_007981.1:g.131109T>C
NC_000009.12:g.104802047A>G
NC_000009.11:g.107564328A>G
NM_005502.4:c.4698+7T>C
More... 		01/13/2018 intron variant benign|likely benign childhood <1 / 1 000 000 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 RCV000263724 CLINVAR
  RCV000316497 CLINVAR
  RCV002058753 CLINVAR
dbSNP (RS) rs41415046 CLINVAR
MedGen C0039292 CLINVAR
  C3661900 CLINVAR
  C5231558 CLINVAR
NCBI Gene ABCA1 CLINVAR
OMIM 205400 CLINVAR
  600046 CLINVAR
  604091 CLINVAR