RGD:127323989 Rat Genome Database

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Variant: RGD:127323989 -  Homo sapiens

RGD ID: 127323989
RS ID: rs1461760908
ClinVar ID: CV1160255
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PCSK9  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 55,509,708
GRCh38 1 55,044,035
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_275t1:c.399+1G>C
NM_174936.4:c.399+1G>C
LRG_275:g.9489G>C
NG_009061.1:g.9489G>C
More...
01/05/2021 intron variant|splice donor variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PCSK9
Accession:NM_174936
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:NM_001407242
Location:INTRON

Gene Symbol:PCSK9
Accession:NM_001407241
Location:INTRON

Gene Symbol:PCSK9
Accession:NM_001407244
Location:INTRON

Gene Symbol:PCSK9
Accession:NM_001407247
Location:INTRON

Gene Symbol:PCSK9
Accession:NM_001407243
Location:INTRON

Gene Symbol:PCSK9
Accession:NM_001407245
Location:INTRON

Gene Symbol:PCSK9
Accession:NR_110451
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

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001524386 CLINVAR
dbSNP (RS) rs1461760908 CLINVAR
MedGen C0020445 CLINVAR
NCBI Gene PCSK9 CLINVAR
OMIM 607786 CLINVAR
SNOMED CT 398036000 CLINVAR