Variant (rsID / SNP)

rs121908390

rs121908390 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYLD. Location: chromosome 16, position 50,830,354. Clinical significance in the table: Pathogenic.

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Reference-table entries

CYLDPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:50830354
Cytoband: 16q12.1
HGVS: NM_001378743.1(CYLD):c.2806C>T (p.Arg936Ter)
Allele change: Nonsense_R936X

Associated conditions / phenotypes

Brooke-Spiegler syndrome|Familial cylindromatosis|Familial multiple trichoepitheliomata

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.