NM_001348323.3(TRIP12):c.586_587del (p.Ser196fs) AND Clark-Baraitser syndrome
- Germline classification:
- Pathogenic (2 submissions)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000515143.4
Allele description [Variation Report for NM_001348323.3(TRIP12):c.586_587del (p.Ser196fs)]
NM_001348323.3(TRIP12):c.586_587del (p.Ser196fs)
Condition(s)
- Name:
- Clark-Baraitser syndrome
- Synonyms:
- MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; BARAITSER SYNDROME; Mental retardation, tall stature, obesity, macrocephaly and typical facial features; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0030914; MedGen: C2931130; OMIM: 617752
Assertion and evidence details
Last Updated: Dec 7, 2024