NM_017849.4(TMEM127):c.447G>A (p.Trp149Ter) 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:
- RCV000114832.1
Allele description [Variation Report for NM_017849.4(TMEM127):c.447G>A (p.Trp149Ter)]
NM_017849.4(TMEM127):c.447G>A (p.Trp149Ter)
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
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PREDICTED: Homo sapiens capping protein regulator and myosin 1 linker 3 (CARMIL3...
PREDICTED: Homo sapiens capping protein regulator and myosin 1 linker 3 (CARMIL3), transcript variant X11, mRNAgi|2462498130|ref|XM_054332362.1|Nucleotide
-
PREDICTED: Homo sapiens intersectin 2 (ITSN2), transcript variant X5, mRNA
PREDICTED: Homo sapiens intersectin 2 (ITSN2), transcript variant X5, mRNAgi|2462573800|ref|XM_054342319.1|Nucleotide
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Last Updated: Dec 17, 2022