RGD:12844327 Rat Genome Database

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Variant: RGD:12844327 -  Homo sapiens

RGD ID: 12844327
RS ID: rs780022870
ClinVar ID: CV369483
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRKDC  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 48,777,112
GRCh38 8 47,864,551
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001081640.2:c.5571+5C>T
LRG_162t1:c.5571+5C>T
LRG_162:g.100633C>T
NG_023435.1:g.100633C>T
More... 		10/26/2020 intron variant likely benign|uncertain significance IMMUNODEFICIENCY 26 WITH NEUROLOGIC ABNORMALITIES; Immunodeficiency 26 with or without neurologic abnormalities; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PRKDC
Accession:NM_001081640
Location:INTRON

Gene Symbol:PRKDC
Accession:NM_006904
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000703564 CLINVAR
  RCV001703555 CLINVAR
dbSNP (RS) rs780022870 CLINVAR
MedGen C3661900 CLINVAR
  C4014833 CLINVAR
NCBI Gene PRKDC CLINVAR
OMIM 600899 CLINVAR
  615966 CLINVAR