Variant (rsID / SNP)

rs199422246

rs199422246 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DKC1. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DKC1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_001363.5(DKC1):c.472C>T (p.Arg158Trp)
Allele change: Silent

Associated conditions / phenotypes

Dyskeratosis congenita, X-linked

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.