NM_002382.5(MAX):c.437C>G (p.Pro146Arg) AND MAX-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 31, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003402360.4
Allele description [Variation Report for NM_002382.5(MAX):c.437C>G (p.Pro146Arg)]
NM_002382.5(MAX):c.437C>G (p.Pro146Arg)
Condition(s)
- Name:
- MAX-related disorder
- Synonyms:
- MAX-related condition
- Identifiers:
-
RecName: Full=Chaperonin GroEL, chloroplastic; AltName: Full=60 kDa chaperonin; ...
RecName: Full=Chaperonin GroEL, chloroplastic; AltName: Full=60 kDa chaperonin; AltName: Full=Chaperonin-60; Short=Cpn60gi|5921740|sp|O78419.1|CH60_GUITHProtein
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See more...Assertion and evidence details
Last Updated: May 19, 2024