NC_000012.12:g.(?_28125337)_(28231096_?)del AND Autism
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 20, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000754140.1
Allele description [Variation Report for NC_000012.12:g.(?_28125337)_(28231096_?)del]
NC_000012.12:g.(?_28125337)_(28231096_?)del
Condition(s)
- Name:
- Autism (AUTS)
- Synonyms:
- Autistic disorder; Autistic disorder of childhood onset
- Identifiers:
- MONDO: MONDO:0005260; MeSH: D001321; MedGen: C0004352; OMIM: 209850; Human Phenotype Ontology: HP:0000717
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Homo sapiens VPS11 core subunit of CORVET and HOPS complexes (VPS11), transcript...
Homo sapiens VPS11 core subunit of CORVET and HOPS complexes (VPS11), transcript variant 9, non-coding RNAgi|1804894048|ref|NR_165449.1|Nucleotide
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Homo sapiens thrombospondin type 1 domain containing 7A (THSD7A), mRNA
Homo sapiens thrombospondin type 1 domain containing 7A (THSD7A), mRNAgi|1519313347|ref|NM_015204.3|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jun 9, 2024