NM_206937.2(LIG4):c.2266C>A (p.Arg756Ser) AND DNA ligase IV deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001934652.3
Allele description [Variation Report for NM_206937.2(LIG4):c.2266C>A (p.Arg756Ser)]
NM_206937.2(LIG4):c.2266C>A (p.Arg756Ser)
Condition(s)
-
LOW QUALITY PROTEIN: C-terminal binding protein 2, like [Solea senegalensis]
LOW QUALITY PROTEIN: C-terminal binding protein 2, like [Solea senegalensis]gi|2105420497|ref|XP_043870294.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024