NM_003070.5(SMARCA2):c.3604G>T (p.Gly1202Cys) AND Nicolaides-Baraitser syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 26, 2012
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000022909.5
Allele description [Variation Report for NM_003070.5(SMARCA2):c.3604G>T (p.Gly1202Cys)]
NM_003070.5(SMARCA2):c.3604G>T (p.Gly1202Cys)
Condition(s)
-
apoptosis-resistant E3 ubiquitin protein ligase 1 [Mus musculus]
apoptosis-resistant E3 ubiquitin protein ligase 1 [Mus musculus]gi|194473662|ref|NP_835166.3|Protein
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Last Updated: Sep 1, 2024