NM_001101.5(ACTB):c.1094C>G (p.Ser365Cys) AND Baraitser-Winter syndrome 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003873290.1
Allele description [Variation Report for NM_001101.5(ACTB):c.1094C>G (p.Ser365Cys)]
NM_001101.5(ACTB):c.1094C>G (p.Ser365Cys)
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
-
eggc.vipzOa (0)
BioProject
-
Agpat5 1-acylglycerol-3-phosphate O-acyltransferase 5 [Mus musculus]
Agpat5 1-acylglycerol-3-phosphate O-acyltransferase 5 [Mus musculus]Gene ID:52123Gene
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See more...Assertion and evidence details
Last Updated: Mar 5, 2024