Variant (rsID / SNP)

rs146700772

rs146700772 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DKC1. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DKC1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_001363.5(DKC1):c.838A>C (p.Ser280Arg)
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.