NM_001203.3(BMPR1B):c.*2302G>A AND Brachydactyly
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000407842.5
Allele description [Variation Report for NM_001203.3(BMPR1B):c.*2302G>A]
NM_001203.3(BMPR1B):c.*2302G>A
Condition(s)
- Name:
- Brachydactyly
- Synonyms:
- Brachydactyly syndrome; Brachydactyly (disease)
- Identifiers:
- MONDO: MONDO:0021004; MedGen: C0221357; Human Phenotype Ontology: HP:0001156
Assertion and evidence details
Last Updated: Apr 9, 2023