NM_001372044.2(SHANK3):c.3989_4001del (p.Arg1330fs) AND Intellectual disability
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 20, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001257673.5
Allele description [Variation Report for NM_001372044.2(SHANK3):c.3989_4001del (p.Arg1330fs)]
NM_001372044.2(SHANK3):c.3989_4001del (p.Arg1330fs)
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 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3, mRNA...
Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3, mRNA (cDNA clone MGC:79246 IMAGE:6971716), complete cdsgi|45708978|gb|BC067423.1|Nucleotide
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Last Updated: Oct 8, 2024