NM_206937.2(LIG4):c.2316_2332del (p.Gln773fs) AND DNA ligase IV deficiency
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003621178.2
Allele description [Variation Report for NM_206937.2(LIG4):c.2316_2332del (p.Gln773fs)]
NM_206937.2(LIG4):c.2316_2332del (p.Gln773fs)
Condition(s)
-
Mus musculus cytochrome c oxidase assembly factor 6 (Coa6), mRNA
Mus musculus cytochrome c oxidase assembly factor 6 (Coa6), mRNAgi|237757333|ref|NM_174987.4|Nucleotide
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Homologene neighbors for GEO Profiles (Select 8190682) (0)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 8190499) (56)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 8191189) (20)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 8186492) (20)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024