RGD:11550503 Rat Genome Database

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Variant: RGD:11550503 -  Homo sapiens

RGD ID: 11550503
RS ID: rs188406927
ClinVar ID: CV256760
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRKCSH  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 11,548,955
GRCh38 19 11,438,134
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.350+10T>C
NG_009300.1:g.7687T>C
NC_000019.10:g.11438134T>C
NC_000019.9:g.11548955T>C
More... 		12/31/2019 intron variant benign|likely 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_001379609
Location:INTRON

Gene Symbol:PRKCSH
Accession:NM_001001329
Location:INTRON

Gene Symbol:PRKCSH
Accession:NM_001289104
Location:INTRON

Gene Symbol:PRKCSH
Accession:NM_002743
Location:INTRON

Gene Symbol:PRKCSH
Accession:NM_001289103
Location:INTRON

Gene Symbol:PRKCSH
Accession:NM_001289102
Location:INTRON

Gene Symbol:PRKCSH
Accession:NM_001379608
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000251837 CLINVAR
  RCV000292366 CLINVAR
  RCV000966475 CLINVAR
dbSNP (RS) rs188406927 CLINVAR
MedGen C0887850 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene PRKCSH CLINVAR
OMIM 174050 CLINVAR
  177060 CLINVAR