NM_000141.5(FGFR2):c.-46G>A AND Acrocephalosyndactyly type I
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000296633.1
Allele description
NM_000141.5(FGFR2):c.-46G>A
Condition(s)
- Name:
- Acrocephalosyndactyly type I
- Synonyms:
- Apert syndrome; Acrocephalo-syndactyly type 1; ACS 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007041; MedGen: C0001193; Orphanet: 87; OMIM: 101200
Assertion and evidence details
Last Updated: Jun 22, 2020