NM_000020.3(ACVRL1):c.270C>A (p.Cys90Ter) AND Telangiectasia, hereditary hemorrhagic, type 2
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Mar 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000810225.7
Allele description [Variation Report for NM_000020.3(ACVRL1):c.270C>A (p.Cys90Ter)]
NM_000020.3(ACVRL1):c.270C>A (p.Cys90Ter)
Condition(s)
-
SMG1P3 (0)
Conserved Domains
-
RecName: Full=Serine/threonine-protein kinase N2; AltName: Full=PKN gamma; AltNa...
RecName: Full=Serine/threonine-protein kinase N2; AltName: Full=PKN gamma; AltName: Full=Protein kinase C-like 2; AltName: Full=Protein-kinase C-related kinase 2gi|341942196|sp|Q8BWW9.3|PKN2_MOUSEProtein
-
SA0225 [Staphylococcus aureus subsp. aureus N315]
SA0225 [Staphylococcus aureus subsp. aureus N315]Gene ID:1123002Gene
-
MCOLN3 mucolipin TRP cation channel 3 [Homo sapiens]
MCOLN3 mucolipin TRP cation channel 3 [Homo sapiens]Gene ID:55283Gene
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Last Updated: May 1, 2024