NM_001363.5(DKC1):c.838A>C (p.Ser280Arg) AND DKC1-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 21, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004018698.1
Allele description [Variation Report for NM_001363.5(DKC1):c.838A>C (p.Ser280Arg)]
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg)
Condition(s)
- Name:
- DKC1-related disorder
- Synonyms:
- DKC1-related condition
- Identifiers:
- MONDO: MONDO:0100152; MedGen: CN294808
-
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Related DataSets for GEO Profiles (Select 104962496) (1)
GEO DataSets
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Chromosome neighbors for GEO Profiles (Select 104982609) (20)
GEO Profiles
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Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 3, mRNA
Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 3, mRNAgi|1890346091|ref|NM_001193536.2|Nucleotide
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Gene Links for GEO Profiles (Select 112846734) (1)
Gene
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Last Updated: Jun 29, 2024