NM_001003694.2(BRPF1):c.1186G>T (p.Ala396Ser) AND Intellectual developmental disorder with dysmorphic facies and ptosis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 1, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003143814.3
Allele description [Variation Report for NM_001003694.2(BRPF1):c.1186G>T (p.Ala396Ser)]
NM_001003694.2(BRPF1):c.1186G>T (p.Ala396Ser)
Condition(s)
Assertion and evidence details
Last Updated: Mar 16, 2024