RGD:14691670 Rat Genome Database

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Variant: RGD:14691670 -  Homo sapiens

RGD ID: 14691670
RS ID: rs1225046798
ClinVar ID: CV616135
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PCSK9  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 55,505,502
GRCh38 1 55,039,829
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_275t1:c.-9C>T
LRG_275:g.5283C>T
NG_009061.1:g.5283C>T
NM_174936.3:c.-9C>T
More... 		03/12/2018 5 prime utr variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PCSK9
Accession:NM_001407242
Location:5UTRS;EXON

Gene Symbol:PCSK9
Accession:NM_001407241
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_001407244
Location:5UTRS;EXON

Gene Symbol:PCSK9
Accession:NM_174936
Location:5UTRS;EXON

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

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

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

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

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

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

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

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

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

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

Gene Symbol:
Accession:
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000772247 CLINVAR
dbSNP (RS) rs1225046798 CLINVAR
MedGen C0020445 CLINVAR
NCBI Gene PCSK9 CLINVAR
OMIM 607786 CLINVAR
SNOMED CT 398036000 CLINVAR