NM_206937.2(LIG4):c.2317C>A (p.Gln773Lys) AND DNA ligase IV deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 24, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000814485.6
Allele description [Variation Report for NM_206937.2(LIG4):c.2317C>A (p.Gln773Lys)]
NM_206937.2(LIG4):c.2317C>A (p.Gln773Lys)
Condition(s)
-
LPIN1 [Pogona vitticeps]
LPIN1 [Pogona vitticeps]Gene ID:110083691Gene
-
etnppl ethanolamine-phosphate phospho-lyase [Danio rerio]
etnppl ethanolamine-phosphate phospho-lyase [Danio rerio]Gene ID:393421Gene
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Last Updated: Sep 29, 2024