NM_001101.5(ACTB):c.255C>T (p.Ile85=) AND Baraitser-Winter syndrome 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 9, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001425880.8
Allele description [Variation Report for NM_001101.5(ACTB):c.255C>T (p.Ile85=)]
NM_001101.5(ACTB):c.255C>T (p.Ile85=)
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
-
Homo sapiens olfactory receptor family 5 subfamily M member 9 (OR5M9), mRNA
Homo sapiens olfactory receptor family 5 subfamily M member 9 (OR5M9), mRNAgi|52317127|ref|NM_001004743.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024