RGD:155995369 Rat Genome Database

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Variant: RGD:155995369 -  Homo sapiens

RGD ID: 155995369
ClinVar ID: CV2122543
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRKCD  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 53,218,889
GRCh38 3 53,184,873
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1327t1:c.788-1G>T
NM_001316327.2:c.788-1G>T
NM_001354679.2:c.788-1G>T
NM_001354680.2:c.788-1G>T
More... 		08/15/2022 splice acceptor variant likely pathogenic Autoimmune lymphoproliferative syndrome, type III
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PRKCD
Accession:NM_001354676
Location:INTRON

Gene Symbol:PRKCD
Accession:NM_006254
Location:INTRON

Gene Symbol:PRKCD
Accession:NM_001354679
Location:INTRON

Gene Symbol:PRKCD
Accession:NM_001316327
Location:INTRON

Gene Symbol:PRKCD
Accession:NM_001354680
Location:INTRON

Gene Symbol:PRKCD
Accession:XM_047448564
Location:INTRON

Gene Symbol:PRKCD
Accession:NM_212539
Location:INTRON

Gene Symbol:PRKCD
Accession:NM_001354678
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:11976687   PMID:16199547   PMID:23319571   PMID:23430113   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002974924 CLINVAR
MedGen C3809928 CLINVAR
NCBI Gene PRKCD CLINVAR
OMIM 176977 CLINVAR
  615559 CLINVAR