NM_017849.4(TMEM127):c.419G>A (p.Cys140Tyr) AND Pheochromocytoma
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000114831.1
Allele description [Variation Report for NM_017849.4(TMEM127):c.419G>A (p.Cys140Tyr)]
NM_017849.4(TMEM127):c.419G>A (p.Cys140Tyr)
Condition(s)
- Name:
- Pheochromocytoma
- Synonyms:
- Chromaffinoma; Chromaffin paraganglioma; Chromaffin tumor; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008233; MedGen: C0031511; Orphanet: 29072; OMIM: 171300; Human Phenotype Ontology: HP:0002666
Assertion and evidence details
Last Updated: Sep 29, 2024