RGD:25327560 Rat Genome Database

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Variant: RGD:25327560 -  Homo sapiens

RGD ID: 25327560
RS ID: rs1403833564
ClinVar ID: CV815949
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PIK3R1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 67,589,535
GRCh38 5 68,293,707
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_181523.3:c.1300-2A>G
NM_001242466.2:c.211-2A>G
NM_181524.2:c.400-2A>G
NM_181504.4:c.490-2A>G
More... 		05/03/2019 splice acceptor variant likely pathogenic|not provided Agammaglobulinemia 7, autosomal recessive; AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO PIK3R1 DEFECT; Immunodeficiency 36; IMMUNODEFICIENCY 36 WITH LYMPHOPROLIFERATION; LIPODYSTROPHY, PARTIAL, WITH RIEGER ANOMALY AND SHORT STATURE; none provided; SHORT STATURE, HYPEREXTENSIBILITY, HERNIA, OCULAR DEPRESSION, RIEGER ANOMALY, AND TEETHING DELAY; Stature, Hyperextensibility of joints or Hernia (inguinal), Ocular depression, Rieger anomaly and Teething delay
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PIK3R1
Accession:NM_181524
Location:INTRON

Gene Symbol:PIK3R1
Accession:NM_181504
Location:INTRON

Gene Symbol:PIK3R1
Accession:XM_047417315
Location:INTRON

Gene Symbol:PIK3R1
Accession:XM_017009585
Location:INTRON

Gene Symbol:PIK3R1
Accession:XM_047417316
Location:INTRON

Gene Symbol:PIK3R1
Accession:NM_181523
Location:INTRON

Gene Symbol:PIK3R1
Accession:XM_047417317
Location:INTRON

Gene Symbol:PIK3R1
Accession:NM_001242466
Location:INTRON

Gene Symbol:PIK3R1
Accession:XM_005248542
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532   PMID:32499645   PMID:34307262  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001027611 CLINVAR
  RCV001064934 CLINVAR
  RCV001731193 CLINVAR
dbSNP (RS) rs1403833564 CLINVAR
MedGen C0878684 CLINVAR
  C3661900 CLINVAR
  C5197805 CLINVAR
NCBI Gene PIK3R1 CLINVAR
OMIM 171833 CLINVAR
  269880 CLINVAR
  615214 CLINVAR
  616005 CLINVAR