NM_173660.5(DOK7):c.714C>A (p.Thr238=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003807418.1
Allele description [Variation Report for NM_173660.5(DOK7):c.714C>A (p.Thr238=)]
NM_173660.5(DOK7):c.714C>A (p.Thr238=)
Condition(s)
- Name:
- Fetal akinesia deformation sequence 1 (FADS1)
- Synonyms:
- Pena Shokeir syndrome, type 1; Lethal Pena-Shokeir 1 syndrome; Pena-Shokeir syndrome type I; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0100101; MedGen: C1276035; Orphanet: 994; OMIM: 208150; Human Phenotype Ontology: HP:0001989
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Homo sapiens methyl-CpG binding domain protein 1 (MBD1), transcript variant 20, ...
Homo sapiens methyl-CpG binding domain protein 1 (MBD1), transcript variant 20, mRNAgi|1890334254|ref|NM_001323953.2|Nucleotide
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Homologene neighbors for GEO Profiles (Select 121060090) (0)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: Mar 5, 2024