RGD:11648343 Rat Genome Database

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Variant: RGD:11648343 -  Homo sapiens

RGD ID: 11648343
RS ID: rs886046427
ClinVar ID: CV282936
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PCSK9  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 55,505,274
GRCh38 1 55,039,601
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
LRG_275t1:c.-237T>G
LRG_275:g.5055T>G
NG_009061.1:g.5055T>G
NC_000001.11:g.55039601T>G
More... 		06/14/2016 2kb upstream variant|5 prime utr variant uncertain significance 1-9 / 1 000 000 Fredrickson type IIa hyperlipoproteinemia; Hyper-beta-lipoproteinemia; HYPER-LOW-DENSITY-LIPOPROTEINEMIA; HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF; HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL; Hyperlipoproteinemia type 2; Hyperlipoproteinemia Type II; Hyperlipoproteinemia Type IIa; Hypobetalipoproteinemia, familial, associated with apob31; Hypobetalipoproteinemia, familial, associated with apob39; Hypobetalipoproteinemia, familial, associated with apob40; Hypobetalipoproteinemia, familial, associated with apob46; Hypobetalipoproteinemia, familial, associated with apob87; Hypobetalipoproteinemia, familial, associated with apob90 or apob89; LDL RECEPTOR DISORDER
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PCSK9
Accession:NM_174936
Location:5UTRS;EXON

Gene Symbol:PCSK9
Accession:NM_001407244
Location:5UTRS;EXON

Gene Symbol:PCSK9
Accession:NM_001407246
Location:5UTRS;EXON

Gene Symbol:PCSK9
Accession:NM_001407243
Location:5UTRS;EXON

Gene Symbol:PCSK9
Accession:NM_001407240
Location:5UTRS;EXON

Gene Symbol:PCSK9
Accession:NM_001407247
Location:5UTRS;EXON

Gene Symbol:PCSK9
Accession:NM_001407242
Location:5UTRS;EXON

Gene Symbol:PCSK9
Accession:NM_001407241
Location:5UTRS;EXON

Gene Symbol:PCSK9
Accession:NM_001407245
Location:5UTRS;EXON

Gene Symbol:PCSK9
Accession:NR_176323
Location:EXON;NON-CODING

Gene Symbol:PCSK9
Accession:NR_176318
Location:EXON;NON-CODING

Gene Symbol:PCSK9
Accession:NR_176324
Location:EXON;NON-CODING

Gene Symbol:PCSK9
Accession:NR_176321
Location:EXON;NON-CODING

Gene Symbol:PCSK9
Accession:NR_176320
Location:EXON;NON-CODING

Gene Symbol:PCSK9
Accession:NR_176322
Location:EXON;NON-CODING

Gene Symbol:PCSK9
Accession:NR_176319
Location:EXON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:PCSK9
Accession:NR_110451
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000281454 CLINVAR
  RCV000387081 CLINVAR
dbSNP (RS) rs886046427 CLINVAR
MedGen C0745103 CLINVAR
  C1862596 CLINVAR
NCBI Gene PCSK9 CLINVAR
OMIM 143890 CLINVAR
  144400 CLINVAR
  607786 CLINVAR
SNOMED CT 397915002 CLINVAR
  60193003 CLINVAR