NM_181523.3(PIK3R1):c.1344del (p.Lys448fs) AND Immunodeficiency 36
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 14, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001328801.1
Allele description [Variation Report for NM_181523.3(PIK3R1):c.1344del (p.Lys448fs)]
NM_181523.3(PIK3R1):c.1344del (p.Lys448fs)
Condition(s)
-
SRX15830668 (1)
SRA
-
RecName: Full=Ankyrin repeat domain-containing protein 2; AltName: Full=Skeletal...
RecName: Full=Ankyrin repeat domain-containing protein 2; AltName: Full=Skeletal muscle ankyrin repeat protein; Short=mArppgi|575773388|sp|Q9WV06.3|ANKR2_MOUSProtein
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Last Updated: Sep 29, 2024