Variant (rsID / SNP)

rs2280434

rs2280434 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP4F22. Location: chromosome 19, position 15,662,732. Clinical significance in the table: Benign.

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Reference-table entries

CYP4F22Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:15662732
Cytoband: 19p13.12
HGVS: NM_173483.4(CYP4F22):c.*450C>A
Allele change: Silent

Associated conditions / phenotypes

Autosomal recessive congenital ichthyosis 5

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.