RGD:11548206 Rat Genome Database

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Variant: RGD:11548206 -  Homo sapiens

RGD ID: 11548206
RS ID: rs11800243
ClinVar ID: CV249986
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PCSK9  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 55,518,093
GRCh38 1 55,052,420
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.657+9G>A
LRG_275:g.17874G>A
NG_009061.1:g.17874G>A
NC_000001.11:g.55052420G>A
More... 		02/09/2023 intron variant pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance 1-9 / 1 000 000 AllHighlyPenetrant; Familial hypercholesterolemia 3; Familial Hypercholesterolemia, Autosomal Dominant, 3; 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; LDL RECEPTOR DISORDER
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:PCSK9
Accession:NM_001407247
Location:INTRON

Gene Symbol:PCSK9
Accession:NM_174936
Location:INTRON

Gene Symbol:PCSK9
Accession:NM_001407241
Location:INTRON

Gene Symbol:PCSK9
Accession:NM_001407245
Location:INTRON

Gene Symbol:PCSK9
Accession:NM_001407242
Location:INTRON

Gene Symbol:PCSK9
Accession:NM_001407243
Location:INTRON

Gene Symbol:PCSK9
Accession:NM_001407240
Location:INTRON

Gene Symbol:PCSK9
Accession:NM_001407244
Location:INTRON

Gene Symbol:PCSK9
Accession:NM_001407246
Location:INTRON

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

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

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

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

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000248784 CLINVAR
  RCV000256299 CLINVAR
  RCV000405994 CLINVAR
  RCV000461487 CLINVAR
  RCV002365270 CLINVAR
  RCV003148700 CLINVAR
dbSNP (RS) rs11800243 CLINVAR
MedGen C0020445 CLINVAR
  C0020597 CLINVAR
  C0745103 CLINVAR
  C1863551 CLINVAR
  CN169374 CLINVAR
  CN230736 CLINVAR
NCBI Gene PCSK9 CLINVAR
OMIM 143890 CLINVAR
  144400 CLINVAR
  603776 CLINVAR
  607786 CLINVAR
SNOMED CT 397915002 CLINVAR
  398036000 CLINVAR