NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) AND Hereditary pheochromocytoma-paraganglioma
- Germline classification:
- Pathogenic (5 submissions)
- Last evaluated:
- Dec 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000020519.21
Allele description [Variation Report for NM_003002.4(SDHD):c.242C>T (p.Pro81Leu)]
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu)
Condition(s)
- Name:
- Hereditary pheochromocytoma-paraganglioma
- Synonyms:
- Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary Paragangliomas and Pheochromocytomas
- Identifiers:
- MONDO: MONDO:0017366; MedGen: C1708353
Assertion and evidence details
Last Updated: Oct 26, 2024