NM_001123385.2(BCOR):c.347C>T (p.Ser116Leu) AND Oculofaciocardiodental syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001087001.6
Allele description [Variation Report for NM_001123385.2(BCOR):c.347C>T (p.Ser116Leu)]
NM_001123385.2(BCOR):c.347C>T (p.Ser116Leu)
Condition(s)
-
Chain A, Probable copper-exporting P-type ATPase A
Chain A, Probable copper-exporting P-type ATPase Agi|254574779|pdb|3A1E|AProtein
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Last Updated: Mar 5, 2024