RGD:28875969 Rat Genome Database

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Variant: RGD:28875969 -  Homo sapiens

RGD ID: 28875969
RS ID: rs1828646913
ClinVar ID: CV900710
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCA1  NIPSNAP3B  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 107,545,423
GRCh38 9 104,783,142
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000009.11:g.107545423G>A
NM_005502.3:c.*1173C>T
NM_005502.4:c.*1173C>T
NG_007981.1:g.150014C>T
More... 		04/27/2017 3 prime utr variant uncertain significance 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:NM_018376
Location:INTRON

Gene Symbol:NIPSNAP3B
Accession:XM_011518839
Location:INTRON

Gene Symbol:NIPSNAP3B
Accession:XM_047423561
Location:INTRON

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

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_001746344
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001165997 CLINVAR
  RCV001165998 CLINVAR
dbSNP (RS) rs1828646913 CLINVAR
MedGen C0039292 CLINVAR
  C5231558 CLINVAR
NCBI Gene ABCA1 CLINVAR
  NIPSNAP3B CLINVAR
OMIM 205400 CLINVAR
  600046 CLINVAR
  604091 CLINVAR
  608872 CLINVAR