RGD:11611552 Rat Genome Database

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Variant: RGD:11611552 -  Homo sapiens

RGD ID: 11611552
RS ID: rs74316246
ClinVar ID: CV315959
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCA1  NIPSNAP3B  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 107,546,500
GRCh38 9 104,784,219
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.148937T>C
NC_000009.12:g.104784219A>G
NC_000009.11:g.107546500A>G
NM_005502.4:c.*96T>C
More... 		04/01/2019 3 prime utr 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:3UTRS;EXON

Gene Symbol:NIPSNAP3B
Accession:NM_018376
Location:INTRON

Gene Symbol:NIPSNAP3B
Accession:XM_047423561
Location:INTRON

Gene Symbol:NIPSNAP3B
Accession:XM_011518839
Location:INTRON

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

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000300131 CLINVAR
  RCV000396471 CLINVAR
  RCV001575740 CLINVAR
dbSNP (RS) rs74316246 CLINVAR
MedGen C0039292 CLINVAR
  C3661900 CLINVAR
  C5231558 CLINVAR
NCBI Gene ABCA1 CLINVAR
  NIPSNAP3B CLINVAR
OMIM 205400 CLINVAR
  600046 CLINVAR
  604091 CLINVAR
  608872 CLINVAR