Variant (rsID / SNP)

rs118203935

rs118203935 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP4F22. Location: chromosome 19, position 15,659,981. Clinical significance in the table: Pathogenic.

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Reference-table entries

CYP4F22Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:15659981
Cytoband: 19p13.12
HGVS: NM_173483.4(CYP4F22):c.1303C>T (p.His435Tyr)
Allele change: Missense_H435Y

Associated conditions / phenotypes

Autosomal recessive congenital ichthyosis 5|Lamellar ichthyosis

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.