NM_206937.2(LIG4):c.1973del (p.Ile658fs) AND DNA ligase IV deficiency
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003620982.1
Allele description [Variation Report for NM_206937.2(LIG4):c.1973del (p.Ile658fs)]
NM_206937.2(LIG4):c.1973del (p.Ile658fs)
Condition(s)
-
Chain A, Aldehyde oxidoreductase
Chain A, Aldehyde oxidoreductasegi|260656193|pdb|3FC4|AProtein
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024