NM_001348323.3(TRIP12):c.329A>G (p.Asn110Ser) AND Clark-Baraitser syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 31, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003142831.3
Allele description [Variation Report for NM_001348323.3(TRIP12):c.329A>G (p.Asn110Ser)]
NM_001348323.3(TRIP12):c.329A>G (p.Asn110Ser)
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: Mar 16, 2024