RGD:405080328 Rat Genome Database

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Variant: RGD:405080328 -  Homo sapiens

RGD ID: 405080328
ClinVar ID: CV3054815
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRKCD  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 53,218,887
GRCh38 3 53,184,871
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1327t1:c.788-3C>T
NM_001316327.2:c.788-3C>T
NM_001354679.2:c.788-3C>T
NM_001354680.2:c.788-3C>T
More... 		10/03/2023 intron variant uncertain significance Autoimmune lymphoproliferative syndrome, type III
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PRKCD
Accession:NM_001354680
Location:INTRON

Gene Symbol:PRKCD
Accession:NM_212539
Location:INTRON

Gene Symbol:PRKCD
Accession:NM_001316327
Location:INTRON

Gene Symbol:PRKCD
Accession:NM_006254
Location:INTRON

Gene Symbol:PRKCD
Accession:NM_001354679
Location:INTRON

Gene Symbol:PRKCD
Accession:NM_001354678
Location:INTRON

Gene Symbol:PRKCD
Accession:NM_001354676
Location:INTRON

Gene Symbol:PRKCD
Accession:XM_047448564
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003743460 CLINVAR
MedGen C3809928 CLINVAR
NCBI Gene PRKCD CLINVAR
OMIM 176977 CLINVAR
  615559 CLINVAR