NM_152564.5(VPS13B):c.11338G>T (p.Val3780Leu) AND Intellectual disability
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001252625.4
Allele description [Variation Report for NM_152564.5(VPS13B):c.11338G>T (p.Val3780Leu)]
NM_152564.5(VPS13B):c.11338G>T (p.Val3780Leu)
Condition(s)
- Name:
- Intellectual disability
- Synonyms:
- Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
- Identifiers:
- MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249
-
Homo sapiens forkhead box J3 (FOXJ3), transcript variant 4, mRNA
Homo sapiens forkhead box J3 (FOXJ3), transcript variant 4, mRNAgi|1890343233|ref|NM_001198852.2|Nucleotide
-
Homo sapiens chromosome 1 open reading frame 2, mRNA (cDNA clone MGC:48819 IMAGE...
Homo sapiens chromosome 1 open reading frame 2, mRNA (cDNA clone MGC:48819 IMAGE:6061151), complete cdsgi|25304016|gb|BC040136.1|Nucleotide
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Last Updated: Aug 4, 2024