RGD:11608597 Rat Genome Database

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Variant: RGD:11608597 -  Homo sapiens

RGD ID: 11608597
RS ID: rs368288959
ClinVar ID: CV315772
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCA1  NIPSNAP3B  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 107,546,577
GRCh38 9 104,784,296
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.148860G>T
NC_000009.12:g.104784296C>A
NC_000009.11:g.107546577C>A
NM_005502.4:c.*19G>T
More... 		01/12/2018 3 prime utr variant benign|likely benign|uncertain significance 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_047423561
Location:INTRON

Gene Symbol:NIPSNAP3B
Accession:XM_011518839
Location:INTRON

Gene Symbol:NIPSNAP3B
Accession:NM_018376
Location:INTRON

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

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000357285 CLINVAR
  RCV000390293 CLINVAR
dbSNP (RS) rs368288959 CLINVAR
MedGen C0039292 CLINVAR
  C5231558 CLINVAR
NCBI Gene ABCA1 CLINVAR
  NIPSNAP3B CLINVAR
OMIM 205400 CLINVAR
  600046 CLINVAR
  604091 CLINVAR
  608872 CLINVAR