NM_000474.4(TWIST1):c.388G>C (p.Ala130Pro) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 24, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002298079.3
Allele description [Variation Report for NM_000474.4(TWIST1):c.388G>C (p.Ala130Pro)]
NM_000474.4(TWIST1):c.388G>C (p.Ala130Pro)
Condition(s)
- Name:
- TWIST1-related craniosynostosis (CRS1)
- Synonyms:
- Craniosynostosis 1
- Identifiers:
- MONDO: MONDO:0007399; MedGen: C4551902; Orphanet: 63440; OMIM: 123100
- 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
-
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Last Updated: Feb 28, 2024