NM_000141.5(FGFR2):c.*184C>T AND Saethre-Chotzen syndrome
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000300306.6
Allele description [Variation Report for NM_000141.5(FGFR2):c.*184C>T]
NM_000141.5(FGFR2):c.*184C>T
Condition(s)
- Name:
- Saethre-Chotzen syndrome (SCS)
- Synonyms:
- ACS III; Acrocephalo-syndactyly, type 3; Chotzen syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007042; MedGen: C0175699; Orphanet: 794; OMIM: 101400
Assertion and evidence details
Last Updated: Sep 16, 2024