NM_000546.6(TP53):c.635_642del (p.Thr211_Phe212insTer) AND Li-Fraumeni syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003511114.1
Allele description [Variation Report for NM_000546.6(TP53):c.635_642del (p.Thr211_Phe212insTer)]
NM_000546.6(TP53):c.635_642del (p.Thr211_Phe212insTer)
Condition(s)
-
RecName: Full=Cytochrome b-c1 complex subunit 7; AltName: Full=Complex III subun...
RecName: Full=Cytochrome b-c1 complex subunit 7; AltName: Full=Complex III subunit 7; AltName: Full=Complex III subunit VII; AltName: Full=QP-C; AltName: Full=Ubiquinol-cytochrome c reductase complex 14 kDa proteingi|136717|sp|P14927.2|QCR7_HUMANProtein
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024