NM_020975.6(RET):c.2370G>C (p.Leu790Phe) AND Multiple endocrine neoplasia type 2A
- Germline classification:
- Pathogenic/Likely pathogenic (3 submissions)
- Last evaluated:
- Apr 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000014960.24
Allele description [Variation Report for NM_020975.6(RET):c.2370G>C (p.Leu790Phe)]
NM_020975.6(RET):c.2370G>C (p.Leu790Phe)
Condition(s)
- Name:
- Multiple endocrine neoplasia type 2A
- Synonyms:
- MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; Sipple syndrome; MEN 2A; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008234; MeSH: D018813; MedGen: C0025268; Orphanet: 653; OMIM: 171400
-
uncharacterized protein Dmel_CG33012 [Drosophila melanogaster]
uncharacterized protein Dmel_CG33012 [Drosophila melanogaster]gi|442623441|ref|NP_788335.2|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024