Variant (rsID / SNP)

rs28936072

rs28936072 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DKC1. Clinical significance in the table: Pathogenic.

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Reference-table entries

DKC1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_001363.5(DKC1):c.113T>C (p.Ile38Thr)
Allele change: Silent

Associated conditions / phenotypes

Hoyeraal-Hreidarsson syndrome|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.