RGD:11603234 Rat Genome Database

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Variant: RGD:11603234 -  Homo sapiens

RGD ID: 11603234
RS ID: rs202165873
ClinVar ID: CV306326
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCA1  NIPSNAP3B  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 107,545,269
GRCh38 9 104,782,988
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
NM_005502.4:c.*1327G>A
NM_005502.3:c.*1327G>A
NG_007981.1:g.150168G>A
NC_000009.12:g.104782988C>T
More... 		06/14/2016 3 prime utr variant 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
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ABCA1
Accession:NM_005502
Location:3UTRS;EXON

Gene Symbol:NIPSNAP3B
Accession:XM_011518839
Location:INTRON

Gene Symbol:NIPSNAP3B
Accession:XM_047423561
Location:INTRON

Gene Symbol:NIPSNAP3B
Accession:NM_018376
Location:INTRON

Gene Symbol:NIPSNAP3B
Accession:NR_130760
Location:INTRON;NON-CODING

Gene Symbol:NIPSNAP3B
Accession:NR_130759
Location:INTRON;NON-CODING

Gene Symbol:NIPSNAP3B
Accession:XR_007061325
Location:INTRON;NON-CODING

Gene Symbol:NIPSNAP3B
Accession:XR_001746344
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000297873 CLINVAR
  RCV000361968 CLINVAR
dbSNP (RS) rs202165873 CLINVAR
MedGen C0039292 CLINVAR
  C2931838 CLINVAR
NCBI Gene ABCA1 CLINVAR
  NIPSNAP3B CLINVAR
OMIM 205400 CLINVAR
  600046 CLINVAR
  608872 CLINVAR