NM_003036.4(SKI):c.1163C>T (p.Ala388Val) AND Shprintzen-Goldberg syndrome
- Germline classification:
- Benign/Likely benign (3 submissions)
- Last evaluated:
- Jan 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000986220.28
Allele description [Variation Report for NM_003036.4(SKI):c.1163C>T (p.Ala388Val)]
NM_003036.4(SKI):c.1163C>T (p.Ala388Val)
Condition(s)
- Name:
- Shprintzen-Goldberg syndrome (SGS)
- Synonyms:
- Shprintzen-Goldberg craniosynostosis syndrome; Craniosynostosis with arachnodactyly and abdominal hernias; Marfanoid disorder with craniosynostosis type 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008426; MedGen: C1321551; Orphanet: 2462; OMIM: 182212
Assertion and evidence details
Last Updated: Jun 2, 2024