NM_001370259.2(MEN1):c.628_631del (p.Thr210fs) AND Multiple endocrine neoplasia, type 1
- Germline classification:
- Pathogenic (3 submissions)
- Last evaluated:
- Jan 18, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000018163.17
Allele description [Variation Report for NM_001370259.2(MEN1):c.628_631del (p.Thr210fs)]
NM_001370259.2(MEN1):c.628_631del (p.Thr210fs)
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
-
PREDICTED: Aedes albopictus aladin (LOC109431338), mRNA
PREDICTED: Aedes albopictus aladin (LOC109431338), mRNAgi|2669940684|ref|XM_029861950.2|Nucleotide
-
neuroligin-4, X-linked precursor [Homo sapiens]
neuroligin-4, X-linked precursor [Homo sapiens]gi|531034776|ref|NP_001269075.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024