rs2301895

This variant is located in the GTF2IRD1 gene.

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ClinVar annotation

Benign
1 submitter

GTF2IRD1-related disorder

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Research that mentions this SNP (1)

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Genetic association of ACSM1 variation with schizophrenia and major depressive disorder in the Han Chinese population
AssociationN=593Wenjin Li et al.(2015)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Exome sequencing study of 30 Brazilian ADHD trios identified 26 de novo SNVs, 134 very rare heterozygous variants, and 127 rare homozygous mutations across brain-expressed genes. Integration with 503 Brazilian controls and public ADHD databases revealed genes in glutamatergic and serotonergic synaptic pathways, cell adhesion, and synapse-related biological functions as significantly enriched in ADHD.

Traits studied:Attention-Deficit/Hyperactivity Disorder (ADHD)
PubMedDOIMetascience Observatory

About GTF2IRD1

The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]

View all GTF2IRD1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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