NM_015338.6(ASXL1):c.3942_3957del (p.Gln1315fs) AND Bohring-Opitz syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 10, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002468718.4
Allele description [Variation Report for NM_015338.6(ASXL1):c.3942_3957del (p.Gln1315fs)]
NM_015338.6(ASXL1):c.3942_3957del (p.Gln1315fs)
Condition(s)
- Name:
- Bohring-Opitz syndrome
- Synonyms:
- C-like syndrome; Opitz trigonocephaly-like syndrome; Bohring syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011510; MedGen: C0796232; Orphanet: 97297; OMIM: 605039
Assertion and evidence details
Last Updated: Jun 23, 2024