Gene entry
DKC1
dyskerin pseudouridine synthase 1
- Chromosome
- X
- Cytoband
- Xq28
- Variants (rsID)
- 12
DKC1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xq28). Its official name is “dyskerin pseudouridine synthase 1”. The reference table lists 12 variants (rsID) for this gene.
Clinically classified variants
12 reference-table entries with clinical significance.
- rs1127051Benignsingle nucleotide variantDyskeratosis congenita
- rs146700772Benignsingle nucleotide variantDyskeratosis congenita, X-linked|Dyskeratosis congenita
- rs121912305Conflicting interpretationssingle nucleotide variantHoyeraal-Hreidarsson syndrome|Dyskeratosis congenita, X-linked|Dyskeratosis congenita
- rs199422254Conflicting interpretationssingle nucleotide variantDyskeratosis congenita, X-linked|Dyskeratosis congenita
- rs121912288Pathogenicsingle nucleotide variantDyskeratosis congenita, X-linked|Dyskeratosis congenita
- rs121912292Pathogenicsingle nucleotide variantDyskeratosis congenita, X-linked
- rs121912295Pathogenicsingle nucleotide variantDyskeratosis congenita, X-linked
- rs121912304Pathogenicsingle nucleotide variantDyskeratosis congenita, X-linked|Dyskeratosis congenita
- rs137854491Pathogenicsingle nucleotide variantDyskeratosis congenita, X-linked
- rs137854492Pathogenicsingle nucleotide variantDyskeratosis congenita, X-linked
- rs28936072Pathogenicsingle nucleotide variantHoyeraal-Hreidarsson syndrome|Dyskeratosis congenita, X-linked
- rs199422246Uncertain significancesingle nucleotide variantDyskeratosis congenita, X-linked
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.