NM_001370259.2(MEN1):c.1310C>T (p.Ala437Val) AND Multiple endocrine neoplasia, type 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 29, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001344201.7
Allele description [Variation Report for NM_001370259.2(MEN1):c.1310C>T (p.Ala437Val)]
NM_001370259.2(MEN1):c.1310C>T (p.Ala437Val)
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
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KLK1[gene] (44)
ClinVar
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Microbacterium amylolyticum strain DSM 24221, whole genome shotgun sequencing pr...
Microbacterium amylolyticum strain DSM 24221, whole genome shotgun sequencing projectgi|2024189664|ref|NZ_JAGIOL00000000 Z_JAGIOL010000000Nucleotide
-
Bacillus subtilis FELIX_MS361
Bacillus subtilis FELIX_MS361biosample
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Escherichia coli FELIX_MS533
Escherichia coli FELIX_MS533biosample
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Escherichia coli QA-1986 83, Wild type (WT)
Escherichia coli QA-1986 83, Wild type (WT)biosample
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024