RGD:11647346 Rat Genome Database

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Variant: RGD:11647346 -  Homo sapiens

RGD ID: 11647346
RS ID: rs886046446
ClinVar ID: CV281473
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PCSK9  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 55,529,805
GRCh38 1 55,064,132
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.*548T>C
LRG_275:g.29586T>C
NG_009061.1:g.29586T>C
NC_000001.11:g.55064132T>C
More... 		01/12/2018 3 prime utr variant uncertain significance 1-9 / 1 000 000 Familial hypercholesterolemia 3; Familial Hypercholesterolemia, Autosomal Dominant, 3
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:3UTRS;EXON

Gene Symbol:PCSK9
Accession:NM_001407243
Location:3UTRS;EXON

Gene Symbol:PCSK9
Accession:NM_001407246
Location:3UTRS;EXON

Gene Symbol:PCSK9
Accession:NM_001407241
Location:3UTRS;EXON

Gene Symbol:PCSK9
Accession:NM_001407240
Location:3UTRS;EXON

Gene Symbol:PCSK9
Accession:NM_001407244
Location:3UTRS;EXON

Gene Symbol:PCSK9
Accession:NM_001407247
Location:3UTRS;EXON

Gene Symbol:PCSK9
Accession:NM_001407245
Location:3UTRS;EXON

Gene Symbol:PCSK9
Accession:NM_174936
Location:3UTRS;EXON

Gene Symbol:PCSK9
Accession:NM_001407242
Location:3UTRS;EXON

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

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

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

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

Gene Symbol:PCSK9
Accession:NR_176318
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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000276055 CLINVAR
  RCV000389154 CLINVAR
dbSNP (RS) rs886046446 CLINVAR
MedGen C0020597 CLINVAR
  C1863551 CLINVAR
NCBI Gene PCSK9 CLINVAR
OMIM 603776 CLINVAR
  607786 CLINVAR