NM_001370259.2(MEN1):c.65T>G (p.Leu22Arg) AND Multiple endocrine neoplasia, type 1
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Oct 20, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000018157.10
Allele description [Variation Report for NM_001370259.2(MEN1):c.65T>G (p.Leu22Arg)]
NM_001370259.2(MEN1):c.65T>G (p.Leu22Arg)
Condition(s)
- Name:
- Multiple endocrine neoplasia, type 1 (MEN1)
- Synonyms:
- MEA I; MEN I; Endocrine adenomatosis multiple; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007540; MeSH: D018761; MedGen: C0025267; Orphanet: 652; OMIM: 131100
Assertion and evidence details
Last Updated: Sep 29, 2024