NM_020975.6(RET):c.2753T>C (p.Met918Thr) AND Medullary thyroid carcinoma
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Aug 2, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000417859.9
Allele description [Variation Report for NM_020975.6(RET):c.2753T>C (p.Met918Thr)]
NM_020975.6(RET):c.2753T>C (p.Met918Thr)
Condition(s)
- Name:
- Medullary thyroid carcinoma (MTC)
- Synonyms:
- Medullary thyroid gland carcinoma
- Identifiers:
- MONDO: MONDO:0015277; MeSH: C536914; MedGen: C0238462; Human Phenotype Ontology: HP:0002865
-
RecName: Full=Inactive tyrosine-protein kinase transmembrane receptor ROR1; AltN...
RecName: Full=Inactive tyrosine-protein kinase transmembrane receptor ROR1; AltName: Full=Neurotrophic tyrosine kinase, receptor-related 1; Flags: Precursorgi|118572711|sp|Q01973.2|ROR1_HUMANProtein
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Last Updated: Jun 9, 2024