M1T (p.Met1Thr) variant of SDHD (O14521)
M1T (p.Met1Thr) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Carney-Stratak. The record also includes published literature and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs2498895308
- ClinGen CA382616601
- ClinVar RCV003783589
- Pathogenic
- Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Carney-Stratak
- Missense
- ClinVar: Pathogenic (Pheochromocytoma; Paragangliomas with sensorineural hearing loss)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)