NM_000942.5(PPIB):c.426C>T (p.Asn142=) AND Osteogenesis imperfecta type 9
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000354164.5
Allele description [Variation Report for NM_000942.5(PPIB):c.426C>T (p.Asn142=)]
NM_000942.5(PPIB):c.426C>T (p.Asn142=)
Condition(s)
-
647389[BioProject] (182)
Nucleotide
-
Salamandra salamandra isolate FS8 recombination activating protein 2 (RAG2) gene...
Salamandra salamandra isolate FS8 recombination activating protein 2 (RAG2) gene, partial cdsgi|582984000|gb|KF645784.1|Nucleotide
-
Salamandra salamandra isolate FS6 recombination activating protein 2 (RAG2) gene...
Salamandra salamandra isolate FS6 recombination activating protein 2 (RAG2) gene, partial cdsgi|582983996|gb|KF645782.1|Nucleotide
-
Salamandra salamandra isolate FS4 recombination activating protein 2 (RAG2) gene...
Salamandra salamandra isolate FS4 recombination activating protein 2 (RAG2) gene, partial cdsgi|582983992|gb|KF645780.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 1, 2024