NM_000404.4(GLB1):c.245C>T (p.Thr82Met) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 25, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001559063.4
Allele description [Variation Report for NM_000404.4(GLB1):c.245C>T (p.Thr82Met)]
NM_000404.4(GLB1):c.245C>T (p.Thr82Met)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
COP9 signalosome complex subunit 6 [Homo sapiens]
COP9 signalosome complex subunit 6 [Homo sapiens]gi|34147637|ref|NP_006824.2|Protein
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Last Updated: Oct 8, 2024