NM_003072.5(SMARCA4):c.1812+3G>A AND Intellectual disability, autosomal dominant 16
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 15, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001809400.2
Allele description [Variation Report for NM_003072.5(SMARCA4):c.1812+3G>A]
NM_003072.5(SMARCA4):c.1812+3G>A
Condition(s)
-
C-terminal-binding protein 1 isoform X2 [Salvelinus namaycush]
C-terminal-binding protein 1 isoform X2 [Salvelinus namaycush]gi|1955725095|ref|XP_038868432.1|Protein
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Last Updated: Sep 29, 2024