NM_001203.3(BMPR1B):c.*141C>T AND multiple conditions
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 22, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000639570.13
Allele description [Variation Report for NM_001203.3(BMPR1B):c.*141C>T]
NM_001203.3(BMPR1B):c.*141C>T
Condition(s)
- Name:
- Type A2 brachydactyly (BDA2)
- Synonyms:
- BRACHYMESOPHALANGY II; Mohr-Wriedt type brachydactyly; Brachydactyly, type 2a; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007216; MedGen: C1832702; Orphanet: 93396; OMIM: 112600; Human Phenotype Ontology: HP:0009372
-
hs3st1l1 [Clupea harengus]
hs3st1l1 [Clupea harengus]Gene ID:105893470Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024