NM_001079866.2(BCS1L):c.268C>T (p.Arg90Cys) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001003575.3
Allele description [Variation Report for NM_001079866.2(BCS1L):c.268C>T (p.Arg90Cys)]
NM_001079866.2(BCS1L):c.268C>T (p.Arg90Cys)
Condition(s)
- Name:
- Microcephaly
- Synonyms:
- Microcephaly (disease)
- Identifiers:
- MONDO: MONDO:0001149; MedGen: C4551563; Human Phenotype Ontology: HP:0000252
- Name:
- Sparse hair
- Identifiers:
- MedGen: C5551005; Human Phenotype Ontology: HP:0008070
- Name:
- Movement disorder
- Synonyms:
- Abnormality of movement
- Identifiers:
- MONDO: MONDO:0005395; MedGen: C0026650; Human Phenotype Ontology: HP:0100022
-
Transcriptomic analysis of gene expression pathways impacted by metaxin-2 (MTX-2...
Transcriptomic analysis of gene expression pathways impacted by metaxin-2 (MTX-2) deficiency in a C. elegans mutant (mtx-2 KO, (gk444)) vs Wild-type worms (N2 Bristol)Transcriptomic analysis of gene expression pathways impacted by metaxin-2 (MTX-2) deficiency in a C. elegans mutant (mtx-2 KO, (gk444)) vs Wild-type worms (N2 Bristol)BioProject
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024