NM_001370259.2(MEN1):c.530T>C (p.Leu177Pro) AND Multiple endocrine neoplasia, type 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 28, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001368589.7
Allele description [Variation Report for NM_001370259.2(MEN1):c.530T>C (p.Leu177Pro)]
NM_001370259.2(MEN1):c.530T>C (p.Leu177Pro)
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
-
X-linked lymphoproliferative syndrome
X-linked lymphoproliferative syndromeMedGen
-
C0549463[conceptid] (1)
MedGen
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024