NM_004329.3(BMPR1A):c.430+1G>A AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 27, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002327250.2
Allele description [Variation Report for NM_004329.3(BMPR1A):c.430+1G>A]
NM_004329.3(BMPR1A):c.430+1G>A
Condition(s)
- Name:
- Hereditary cancer-predisposing syndrome
- Synonyms:
- Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
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Microbe sample from Acidobacteriota bacterium
Microbe sample from Acidobacteriota bacteriumbiosample
-
MIMAG Metagenome-assembled Genome sample from Acidobacteriota bacterium
MIMAG Metagenome-assembled Genome sample from Acidobacteriota bacteriumbiosample
-
Chain A, Superoxide dismutase [Cu-Zn]
Chain A, Superoxide dismutase [Cu-Zn]gi|1402402951|pdb|5O40|AProtein
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Last Updated: Sep 29, 2024