Annotation Detail
Information
- Associated Genes
- PIK3R1
- Associated Variants
-
PIK3R1 p.Arg557Gln (p.R557Q)
(
ENST00000521381.6,
ENST00000320694.13,
ENST00000336483.10,
ENST00000521657.6,
ENST00000522084.6,
ENST00000523872.1,
ENST00000697457.1,
ENST00000697458.1,
ENST00000697460.1,
ENST00000697461.1,
ENST00000697462.1,
ENST00000697465.1,
ENST00000517643.2,
ENST00000697466.1,
ENST00000697467.1 )
PIK3R1 p.Arg557Gln (p.R557Q) ( ENST00000320694.13, ENST00000336483.10, ENST00000517643.2, ENST00000521381.6, ENST00000521657.6, ENST00000522084.6, ENST00000523872.1, ENST00000697457.1, ENST00000697458.1, ENST00000697460.1, ENST00000697461.1, ENST00000697462.1, ENST00000697465.1, ENST00000697466.1, ENST00000697467.1 ) - Associated Disease
- Agammaglobulinemia 7, autosomal recessive SHORT syndrome immunodeficiency 36
- Source Database
- ClinVar
- Description
- NM_181523.3(PIK3R1):c.1670G>A (p.Arg557Gln) AND multiple conditions
- ClinVar Allele ID
- 1043645
- ClinVar RefSeq Alternation Syntax
- NM_181523.3:c.1670G>A
- ClinVar RefSeq Alternation Syntax
- NM_001242466.2:c.581G>A
- ClinVar RefSeq Alternation Syntax
- NM_181504.4:c.860G>A
- ClinVar RefSeq Alternation Syntax
- NM_181524.2:c.770G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-01-14
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001364484
- ClinVar Disease
- Immunodeficiency 36
- ClinVar Disease
- SHORT syndrome
- ClinVar Disease
- Agammaglobulinemia 7, autosomal recessive
- Observed Origin Sample
- germline
- Observed Origin Sample
- inherited
Drugs