NM_004380.3(CREBBP):c.250C>A (p.Pro84Thr) AND CREBBP-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003966257.2
Allele description [Variation Report for NM_004380.3(CREBBP):c.250C>A (p.Pro84Thr)]
NM_004380.3(CREBBP):c.250C>A (p.Pro84Thr)
Condition(s)
- Name:
- CREBBP-related disorder
- Synonyms:
- CREBBP-related condition; CREBBP-Related Disorders
- Identifiers:
Assertion and evidence details
Last Updated: Oct 13, 2024