NM_017849.4(TMEM127):c.543A>G (p.Ala181=) AND Hereditary pheochromocytoma-paraganglioma
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002131046.6
Allele description [Variation Report for NM_017849.4(TMEM127):c.543A>G (p.Ala181=)]
NM_017849.4(TMEM127):c.543A>G (p.Ala181=)
Condition(s)
- Name:
- Hereditary pheochromocytoma-paraganglioma
- Synonyms:
- Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary Paragangliomas and Pheochromocytomas
- Identifiers:
- MONDO: MONDO:0017366; MedGen: C1708353
-
RecName: Full=Synaptotagmin-9; AltName: Full=Synaptotagmin 5; AltName: Full=Syna...
RecName: Full=Synaptotagmin-9; AltName: Full=Synaptotagmin 5; AltName: Full=Synaptotagmin IX; Short=SytIX; AltName: Full=Synaptotagmin Vgi|33112456|sp|Q925C0.1|SYT9_RATProtein
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Last Updated: Sep 29, 2024