SIN3A-related Intellectual Disability Syndrome Due To A Point Mutation(Chromosome 15q24 deletion syndrome) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Neurodevelopmental disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Neurodevelopmental disorders category
Reported Pathogenic variants
S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
1 | SIN3A/25942 | SIN3 transcription regulator family member A | 15q24.2 | Chr15, NC_000015.10 (75369379..75455815, complement) |
86437 nt | 30 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
Variant Information | ||||||||
Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD |
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Clinical Symptoms & Disabilities