NM_001367561.1(DOCK7):c.1332A>G (p.Arg444=) AND Developmental and epileptic encephalopathy, 23
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003585590.1
Allele description [Variation Report for NM_001367561.1(DOCK7):c.1332A>G (p.Arg444=)]
NM_001367561.1(DOCK7):c.1332A>G (p.Arg444=)
Condition(s)
-
cytochrome c oxidase subunit I, partial (mitochondrion) [Chaunax apus]
cytochrome c oxidase subunit I, partial (mitochondrion) [Chaunax apus]gi|1935618573|gb|QPH37612.1|Protein
-
PREDICTED: Homo sapiens myocyte enhancer factor 2A (MEF2A), transcript variant X...
PREDICTED: Homo sapiens myocyte enhancer factor 2A (MEF2A), transcript variant X13, mRNAgi|2217301151|ref|XM_047432526.1|Nucleotide
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Last Updated: Feb 20, 2024