Variant (rsID / SNP)
rs114733570
rs114733570 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLG. Location: chromosome 1, position 152,287,839. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
FLGPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:152287839
- Cytoband
- 1q21.3
- HGVS
- NM_002016.2(FLG):c.94G>T (p.Glu32Ter)
- Allele change
- Nonsense_E32X
Associated conditions / phenotypes
Ichthyosis vulgaris|FLG-related disorders
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.