NM_002181.4(IHH):c.704A>T (p.Asp235Val) AND Brachydactyly type A1
- 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:
- RCV001137202.4
Allele description [Variation Report for NM_002181.4(IHH):c.704A>T (p.Asp235Val)]
NM_002181.4(IHH):c.704A>T (p.Asp235Val)
Condition(s)
- Name:
- Brachydactyly type A1
- Synonyms:
- Brachydactyly Farabee type
- Identifiers:
- MONDO: MONDO:0007215; MedGen: C1862151; Orphanet: 93388; Human Phenotype Ontology: HP:0009371
Assertion and evidence details
Last Updated: Apr 9, 2023