NM_001101.5(ACTB):c.465C>T (p.Ser155=) AND Baraitser-Winter syndrome 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 10, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002214810.6
Allele description [Variation Report for NM_001101.5(ACTB):c.465C>T (p.Ser155=)]
NM_001101.5(ACTB):c.465C>T (p.Ser155=)
Condition(s)
- Name:
- Baraitser-Winter syndrome 1 (BRWS1)
- Synonyms:
- Iris coloboma with ptosis, hypertelorism, and mental retardation; BARAITSER-WINTER SYNDROME 1, ATYPICAL; PACHYGYRIA, MENTAL RETARDATION, EPILEPSY, AND CHARACTERISTIC FACIES; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009470; MedGen: C1855722; Orphanet: 2649; Orphanet: 2995; OMIM: 243310
Assertion and evidence details
Last Updated: Sep 29, 2024