NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) AND Intellectual disability
- Germline classification:
- Uncertain significance (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:
- RCV001252626.10
Allele description [Variation Report for NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr)]
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr)
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
-
PREDICTED: signal peptidase complex catalytic subunit SEC11A isoform X2 [Chinchi...
PREDICTED: signal peptidase complex catalytic subunit SEC11A isoform X2 [Chinchilla lanigera]gi|918590070|ref|XP_013367964.1|Protein
-
fadD32 [Mycobacterium tuberculosis H37Rv]
fadD32 [Mycobacterium tuberculosis H37Rv]Gene ID:886130Gene
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Last Updated: Sep 16, 2024