RGD:405236228 Rat Genome Database

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Variant: RGD:405236228 -  Homo sapiens

RGD ID: 405236228
ClinVar ID: CV3168995
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRKCD  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 53,220,167
GRCh38 3 53,186,151
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1327t1:c.1087-16C>T
NM_001316327.2:c.1087-16C>T
NM_001354679.2:c.1087-16C>T
NM_001354680.2:c.1087-16C>T
More... 		01/25/2024 intron variant likely benign Autoimmune lymphoproliferative syndrome, type III
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003866274 CLINVAR
MedGen C3809928 CLINVAR
NCBI Gene PRKCD CLINVAR
OMIM 176977 CLINVAR
  615559 CLINVAR