rs200703028

This variant is located in the C9orf72 gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters1 publication

Frontotemporal dementia and/or amyotrophic lateral sclerosis 1

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Research that mentions this SNP (1)

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The interleukin‐7 receptor α chain contributes to altered homeostasis of regulatory T cells in multiple sclerosis
ReviewJürgen Haas et al.(2011)· European Journal of Immunology

This is a conference proceedings collection from the 10th BRAINN Congress featuring multiple neuroscience research abstracts, including several genetic/computational studies. Key genetic analyses include: (1) Computational analysis of C9ORF72 gene polymorphisms identifying 11 deleterious amino acid alterations (including rs369166616 causing G465R) associated with neurogenetic disorders like ALS and FTD; (2) Bioinformatics study of IL7R gene SNPs identifying 21 deleterious variants, with rs193922644 and rs201940568 as candidates for MS susceptibility; (3) In silico analysis of RELN gene polymorphisms identifying 23 deleterious amino acid changes associated with neurodevelopmental and neurodegenerative disorders.

Traits studied:Alzheimer's diseaseAmyotrophic lateral sclerosis (ALS)Autism spectrum disorder (ASD)Bipolar disorderFrontotemporal dementia (FTD)LissencephalyMultiple sclerosis (MS)Neurodegenerative diseasesNeuropsychiatric disordersSchizophrenia
PubMedDOIMetascience Observatory

About C9orf72

The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a GGGGCC repeat from 2-22 copies to 700-1600 copies in the intronic sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients (PMID: 23393093). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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