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Suggest Edit for Locus ADTKD_MUC1
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Overview
ID
Disease ID
Gene
Disease
Disease
Inheritance
Type
AD
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Disease Description
HPO Terms
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Prevalence
Prevalence Details
Disease is affected 1-4/1,000,000 (likely an underestimate due to unremarkable findings); repeat expansion responsibile for 95% of disease [@genereviews:NBK153723]
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Locus
Chromosome
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Locus Details
Disease is caused by the single base expansion of a heptanucleotide (7) cytosine homopolymer tract (i.e. from (C)7 to (C)8 ) within one copy of a coding VNTR, resulting in a frameshift mutation. This VNTR has a 60 bp motif, varying in length and sequence composition. This motif ranges in copy number from 20-125 (~1.5-5 kb) and is GC-rich (>80%). The specific copy of the VNTR motif involved varies by family but is consistent within a family [@genereviews:NBK535148]. This locus is particularly difficult to genotype [@pmid:23396133; @pmid:39781475]. Gamaarachchi et al. observed 20 unique VNTR haplotypes which ranged in size from 40–83 copies, with no unrelated individuals sharing the same haplotype. Unique haplotypes implied frequent independent origins of the dupC variant [@doi:10.1101/2025.03.31.646505]. NOTE: Disease is caused by a 7 to 8 C homopolymer expansion within the main motif which we represent here as a change in motif.
Mechanism
Mechanism Detail
Toxic protein product accumulates in kidneys [@genereviews:NBK153723]
Year
Location in Gene
Gene Strand
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Locus Tags
supported_evidence
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Alleles
Reference Motif (Reference Orientation)
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Pathogenic Motif (Reference Orientation)
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Benign Motif (Reference Orientation)
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Unknown Motif (Reference Orientation)
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Locus Structure
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Motif Length
Reference Copies
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GARD
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GeneReviews
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MalaCard
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MedGen
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MONDO
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OMIM
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Orphanet
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gnomAD
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STRIpy
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Tandem Repeat Atlas
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WebSTR
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WebSTR
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References
References
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