NM_004380.3(CREBBP):c.6104del (p.Leu2035fs) AND Rubinstein-Taybi syndrome due to CREBBP mutations
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001252210.2
Allele description [Variation Report for NM_004380.3(CREBBP):c.6104del (p.Leu2035fs)]
NM_004380.3(CREBBP):c.6104del (p.Leu2035fs)
Condition(s)
- Name:
- Rubinstein-Taybi syndrome due to CREBBP mutations
- Synonyms:
- Rubinstein syndrome; Broad thumbs and great toes, characteristic facies, and mental retardation; RUBINSTEIN-TAYBI SYNDROME 1, INCOMPLETE; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008393; MedGen: C4551859; Orphanet: 783; OMIM: 180849
Assertion and evidence details
Last Updated: Jun 23, 2024