Variant (rsID / SNP)

rs1127051

rs1127051 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DKC1. Clinical significance in the table: Benign.

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Reference-table entries

DKC1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_001363.5(DKC1):c.1461C>T (p.Ala487=)
Allele change: Silent

Associated conditions / phenotypes

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.