NM_001032221.6(STXBP1):c.862T>C (p.Trp288Arg) AND Intellectual disability
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 3, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001255351.2
Allele description [Variation Report for NM_001032221.6(STXBP1):c.862T>C (p.Trp288Arg)]
NM_001032221.6(STXBP1):c.862T>C (p.Trp288Arg)
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
-
Mus musculus killer cell lectin-like receptor subfamily A, member 21 (Klra21), m...
Mus musculus killer cell lectin-like receptor subfamily A, member 21 (Klra21), mRNAgi|21361215|ref|NM_053151.1|Nucleotide
-
An07g06430 [Aspergillus niger]
An07g06430 [Aspergillus niger]Gene ID:4981910Gene
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Last Updated: Sep 30, 2023