NM_206937.2(LIG4):c.1245T>A (p.Ile415=) AND DNA ligase IV deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003852094.2
Allele description [Variation Report for NM_206937.2(LIG4):c.1245T>A (p.Ile415=)]
NM_206937.2(LIG4):c.1245T>A (p.Ile415=)
Condition(s)
-
co-chaperone GroES [Corynebacterium canis]
co-chaperone GroES [Corynebacterium canis]gi|1721987228|ref|WP_146325384.1|Protein
-
PREDICTED: Homo sapiens roundabout guidance receptor 2 (ROBO2), transcript varia...
PREDICTED: Homo sapiens roundabout guidance receptor 2 (ROBO2), transcript variant X17, mRNAgi|2217345377|ref|XM_047448678.1|Nucleotide
-
cytochrome c oxidase subunit I (mitochondrion) [Calcarius lapponicus coloratus]
cytochrome c oxidase subunit I (mitochondrion) [Calcarius lapponicus coloratus]gi|2689245868|gb|WWP53935.1|Protein
-
NADH dehydrogenase subunit 3 (mitochondrion) [Calcarius lapponicus coloratus]
NADH dehydrogenase subunit 3 (mitochondrion) [Calcarius lapponicus coloratus]gi|2689245859|gb|WWP53927.1|Protein
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Last Updated: Sep 29, 2024