Variant (rsID / SNP)

rs146466242

rs146466242 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLG. Location: chromosome 1, position 152,275,298. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FLGConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:152275298
Cytoband: 1q21.3
HGVS: NM_002016.2(FLG):c.12064A>T (p.Lys4022Ter)
Allele change: Nonsense_K4022X

Associated conditions / phenotypes

Ichthyosis vulgaris

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.