NM_004380.3(CREBBP):c.6043dup (p.Ser2015fs) AND Menke-Hennekam syndrome 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 14, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002245513.1
Allele description [Variation Report for NM_004380.3(CREBBP):c.6043dup (p.Ser2015fs)]
NM_004380.3(CREBBP):c.6043dup (p.Ser2015fs)
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2023