NM_001367721.1(CASK):c.490G>C (p.Gly164Arg) AND Intellectual disability
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 10, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001260653.2
Allele description [Variation Report for NM_001367721.1(CASK):c.490G>C (p.Gly164Arg)]
NM_001367721.1(CASK):c.490G>C (p.Gly164Arg)
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
-
anti-repressor Ant [Staphylococcus phage 37]
anti-repressor Ant [Staphylococcus phage 37]gi|66395760|ref|YP_240115.1|Protein
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Last Updated: Sep 30, 2023