RGD:28874994 Rat Genome Database

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Variant: RGD:28874994 -  Homo sapiens

RGD ID: 28874994
RS ID: rs567793069
ClinVar ID: CV900761
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCA1  LOC105376196  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 107,690,340
GRCh38 9 104,928,059
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.-217A>G
NG_007981.1:g.5097A>G
NC_000009.12:g.104928059T>C
NC_000009.11:g.107690340T>C
More... 		01/12/2018 5 prime utr variant benign 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
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ABCA1
Accession:NM_005502
Location:5UTRS;EXON

Gene Symbol:LOC105376196
Accession:XR_930204
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001165589 CLINVAR
  RCV001165590 CLINVAR
dbSNP (RS) rs567793069 CLINVAR
MedGen C0039292 CLINVAR
  C5231558 CLINVAR
NCBI Gene ABCA1 CLINVAR
  LOC105376196 CLINVAR
OMIM 205400 CLINVAR
  600046 CLINVAR
  604091 CLINVAR