NM_206937.2(LIG4):c.116T>G (p.Phe39Cys) AND DNA ligase IV deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003019590.3
Allele description [Variation Report for NM_206937.2(LIG4):c.116T>G (p.Phe39Cys)]
NM_206937.2(LIG4):c.116T>G (p.Phe39Cys)
Condition(s)
-
Homo sapiens neurotrimin (NTM), transcript variant 29, non-coding RNA
Homo sapiens neurotrimin (NTM), transcript variant 29, non-coding RNAgi|1905406231|ref|NR_170349.1|Nucleotide
-
Homo sapiens neurotrimin (NTM), transcript variant 16, non-coding RNA
Homo sapiens neurotrimin (NTM), transcript variant 16, non-coding RNAgi|1677539202|ref|NR_147850.2|Nucleotide
-
Rattus norvegicus fibroblast growth factor 13 (Fgf13), mRNA
Rattus norvegicus fibroblast growth factor 13 (Fgf13), mRNAgi|16758167|ref|NM_053428.1|Nucleotide
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Last Updated: Sep 29, 2024