F34L (p.Phe34Leu) variant of SDHD (O14521)
F34L (p.Phe34Leu) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pheochromocytoma; Carney-Stratakis syndrome; Paragangliomas with sensorineural h. The record also includes published literature and structural context.
F34L (p.Phe34Leu) variant details
- p.Phe34Leu
- rs2498899868
- ClinGen CA382616996
- ClinVar RCV003012168
- ClinGen CA382616997
- Uncertain significance
- Pheochromocytoma; Carney-Stratakis syndrome; Paragangliomas with sensorineural h
- Missense
- ClinVar: Uncertain significance (Pheochromocytoma; Carney-Stratakis syndrome; Paragangliomas with)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®): Health Professional Version. (PMID 26389271)