RGD:156411867 Rat Genome Database

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Variant: RGD:156411867 -  Homo sapiens

RGD ID: 156411867
ClinVar ID: CV1972800
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PIK3R1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 67,522,855
GRCh38 5 68,227,027
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_453t1:c.334+18G>C
NM_181523.3:c.334+18G>C
LRG_453:g.16272G>C
NG_012849.2:g.16272G>C
More... 		07/01/2022 intron variant likely benign 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; 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
SHORT syndrome  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:PIK3R1
Accession:NM_181523
Location:INTRON

Gene Symbol:PIK3R1
Accession:XM_005248542
Location:INTRON

Gene Symbol:PIK3R1
Accession:XM_047417315
Location:INTRON

Gene Symbol:PIK3R1
Accession:NM_181504
Location:INTRON

Gene Symbol:PIK3R1
Accession:NM_181524
Location:INTRON

Gene Symbol:PIK3R1
Accession:XM_017009585
Location:INTRON

Gene Symbol:PIK3R1
Accession:NM_001242466
Location:INTRON

Gene Symbol:PIK3R1
Accession:XM_047417316
Location:INTRON

Gene Symbol:PIK3R1
Accession:XM_047417317
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002587632 CLINVAR
MedGen C0878684 CLINVAR
NCBI Gene PIK3R1 CLINVAR
OMIM 171833 CLINVAR
  269880 CLINVAR
  615214 CLINVAR
  616005 CLINVAR