RGD:14692974 Rat Genome Database

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Variant: RGD:14692974 -  Homo sapiens

RGD ID: 14692974
RS ID: rs1237783130
ClinVar ID: CV620725
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PCSK9  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 55,523,188
GRCh38 1 55,057,515
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_275:g.22969G>A
NG_009061.1:g.22969G>A
LRG_275t1:c.1180+1G>A
NC_000001.11:g.55057515G>A
More... 		06/22/2017 splice donor variant uncertain significance

Variant Details
Variant Transcripts
Gene Symbol:PCSK9
Accession:NM_001407244
Location:INTRON

Gene Symbol:PCSK9
Accession:NM_001407242
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_001407247
Location:INTRON

Gene Symbol:PCSK9
Accession:NM_001407243
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:PCSK9
Accession:NM_001407246
Location:INTRON

Gene Symbol:PCSK9
Accession:NM_001407240
Location:INTRON

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

Gene Symbol:PCSK9
Accession:NR_176322
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_176321
Location:INTRON;NON-CODING

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000778248 CLINVAR
dbSNP (RS) rs1237783130 CLINVAR
NCBI Gene PCSK9 CLINVAR
OMIM 607786 CLINVAR