S32A (p.Ser32Ala) variant of SDHD (O14521)
S32A (p.Ser32Ala) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cowden syndrome 3; Pheochromocytoma; Paragangliomas with sensorineural hearing l. The record also includes published literature and structural context.
S32A (p.Ser32Ala) variant details
- p.Ser32Ala
- rs2498899808
- ClinGen CA382616981
- ClinVar RCV003806345
- Uncertain significance
- Cowden syndrome 3; Pheochromocytoma; Paragangliomas with sensorineural hearing l
- Missense
- ClinVar: Uncertain significance (Cowden syndrome 3; Pheochromocytoma; Paragangliomas with sensori)
- 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)