NM_004380.3(CREBBP):c.4439A>G (p.Asp1480Gly) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 7, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000334678.4
Allele description [Variation Report for NM_004380.3(CREBBP):c.4439A>G (p.Asp1480Gly)]
NM_004380.3(CREBBP):c.4439A>G (p.Asp1480Gly)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: CN517202
Assertion and evidence details
Last Updated: Mar 18, 2023