NM_000474.4(TWIST1):c.197del (p.Pro66fs) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 23, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000799522.5
Allele description [Variation Report for NM_000474.4(TWIST1):c.197del (p.Pro66fs)]
NM_000474.4(TWIST1):c.197del (p.Pro66fs)
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
-
S41 family peptidase [Nonomuraea fuscirosea]
S41 family peptidase [Nonomuraea fuscirosea]gi|2652023631|gnl|PRJNA747871|OIE67 5|gb|WSA56990.1|Protein
-
LOC114158881 [Xiphophorus couchianus]
LOC114158881 [Xiphophorus couchianus]Gene ID:114158881Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024