RGD:13467755 Rat Genome Database

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Variant: RGD:13467755 -  Homo sapiens

RGD ID: 13467755
RS ID: rs1554051075
ClinVar ID: CV440012
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PIK3R1  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 67,589,664
GRCh38 5 68,293,836
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001242466.2:c.336+2T>A
NG_012849.2:g.83081T>A
NC_000005.9:g.67589664T>A
NC_000005.10:g.68293836T>A
More... 		02/22/2022 splice donor variant pathogenic 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


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

Gene Symbol:PIK3R1
Accession:XM_047417316
Location:INTRON

Gene Symbol:PIK3R1
Accession:NM_181524
Location:INTRON

Gene Symbol:PIK3R1
Accession:XM_005248542
Location:INTRON

Gene Symbol:PIK3R1
Accession:XM_047417315
Location:INTRON

Gene Symbol:PIK3R1
Accession:NM_001242466
Location:INTRON

Gene Symbol:PIK3R1
Accession:XM_017009585
Location:INTRON

Gene Symbol:PIK3R1
Accession:XM_047417317
Location:INTRON

Gene Symbol:PIK3R1
Accession:NM_181504
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25133428   PMID:27221134   PMID:28104464   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000515774 CLINVAR
  RCV002527446 CLINVAR
dbSNP (RS) rs1554051075 CLINVAR
MedGen C0878684 CLINVAR
  C4014934 CLINVAR
NCBI Gene PIK3R1 CLINVAR
OMIM 171833 CLINVAR
  269880 CLINVAR
  615214 CLINVAR
  616005 CLINVAR
OMIM Allele 171833.0010 CLINVAR