NM_000942.5(PPIB):c.563_566del (p.Asp188fs) AND Osteogenesis imperfecta type 9
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 1, 2012
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000034321.30
Allele description [Variation Report for NM_000942.5(PPIB):c.563_566del (p.Asp188fs)]
NM_000942.5(PPIB):c.563_566del (p.Asp188fs)
Condition(s)
-
protein-glutamine gamma-glutamyltransferase 2 [Danio rerio]
protein-glutamine gamma-glutamyltransferase 2 [Danio rerio]gi|148298683|ref|NP_997821.2|Protein
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Last Updated: Sep 1, 2024