RGD:152068038 Rat Genome Database

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Variant: RGD:152068038 -  Homo sapiens

RGD ID: 152068038
RS ID: rs369329996
ClinVar ID: CV1567020
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRKCD  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 53,219,600
GRCh38 3 53,185,584
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1327t1:c.889-20C>A
NM_001316327.2:c.889-20C>A
NM_001354679.2:c.889-20C>A
NM_001354680.2:c.889-20C>A
More... 		02/03/2021 intron variant likely benign Autoimmune lymphoproliferative syndrome, type III
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PRKCD
Accession:XM_047448564
Location:INTRON

Gene Symbol:PRKCD
Accession:NM_001354678
Location:INTRON

Gene Symbol:PRKCD
Accession:NM_001316327
Location:INTRON

Gene Symbol:PRKCD
Accession:NM_006254
Location:INTRON

Gene Symbol:PRKCD
Accession:NM_212539
Location:INTRON

Gene Symbol:PRKCD
Accession:NM_001354680
Location:INTRON

Gene Symbol:PRKCD
Accession:NM_001354676
Location:INTRON

Gene Symbol:PRKCD
Accession:NM_001354679
Location:INTRON

Gene Symbol:PRKCD
Accession:XR_007095706
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002091195 CLINVAR
dbSNP (RS) rs369329996 CLINVAR
MedGen C3809928 CLINVAR
NCBI Gene PRKCD CLINVAR
OMIM 176977 CLINVAR
  615559 CLINVAR