RGD:8640994 Rat Genome Database

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Variant: RGD:8640994 -  Homo sapiens

RGD ID: 8640994
RS ID: rs186375
ClinVar ID: CV99980
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRKCSH  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 11,558,240
GRCh38 19 11,447,425
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002743.3:c.850-14T>C
NG_009300.1:g.16972T>C
NC_000019.10:g.11447425T>C
NC_000019.9:g.11558240T>C
More... 		07/09/2018 intron|intron variant benign AllHighlyPenetrant; none provided; POLYCYSTIC LIVER DISEASE 1 WITH OR WITHOUT KIDNEY CYSTS
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PRKCSH
Accession:NM_001001329
Location:INTRON

Gene Symbol:PRKCSH
Accession:NM_002743
Location:INTRON

Gene Symbol:PRKCSH
Accession:NM_001289104
Location:INTRON

Gene Symbol:PRKCSH
Accession:NM_001289102
Location:INTRON

Gene Symbol:PRKCSH
Accession:NM_001379609
Location:INTRON

Gene Symbol:PRKCSH
Accession:NM_001379608
Location:INTRON

Gene Symbol:PRKCSH
Accession:NM_001289103
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000080026 CLINVAR
  RCV000276752 CLINVAR
  RCV001664330 CLINVAR
dbSNP (RS) rs186375 CLINVAR
MedGen C0887850 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene PRKCSH CLINVAR
OMIM 174050 CLINVAR
  177060 CLINVAR