Variant (rsID / SNP)

rs121912304

rs121912304 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.146C>T (p.Thr49Met)
Allele change: Silent

Associated conditions / phenotypes

Dyskeratosis congenita, X-linked|Dyskeratosis congenita

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.