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Variant (rsID / SNP)

rs146261631

NOP10

rs146261631 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NOP10. Location: chromosome 15, position 34,635,241. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

NOP10Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
15:34635241
Cytoband
15q14
HGVS
NM_018648.4(NOP10):c.34G>C (p.Asp12His)
Allele change
Missense_D12H

Associated conditions / phenotypes

Dyskeratosis congenita, autosomal recessive 1

Public references

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