RGD:14693160 Rat Genome Database

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Variant: RGD:14693160 -  Homo sapiens

RGD ID: 14693160
RS ID: rs201157643
ClinVar ID: CV620904
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130063575  PRKCSH  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 11,546,860
GRCh38 19 11,436,039
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_041777.1:g.4744T>G
NM_002743.3:c.-77-2A>C
NM_001379609.1:c.-77-2A>C
NC_000019.10:g.11436039A>C
More... 		03/04/2022 5 prime utr variant|splice acceptor variant uncertain significance 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_002743
Location:5UTRS;INTRON

Gene Symbol:PRKCSH
Accession:NM_001379608
Location:5UTRS;INTRON

Gene Symbol:PRKCSH
Accession:NM_001289104
Location:5UTRS;INTRON

Gene Symbol:PRKCSH
Accession:NM_001001329
Location:5UTRS;INTRON

Gene Symbol:PRKCSH
Accession:NM_001379609
Location:5UTRS;INTRON

Gene Symbol:PRKCSH
Accession:NM_001289103
Location:5UTRS;INTRON

Gene Symbol:PRKCSH
Accession:NM_001289102
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26046366  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000778540 CLINVAR
dbSNP (RS) rs201157643 CLINVAR
MedGen C0887850 CLINVAR
NCBI Gene LOC130063575 CLINVAR
  PRKCSH CLINVAR
OMIM 174050 CLINVAR
  177060 CLINVAR