Variant (rsID / SNP)

rs199766569

rs199766569 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALOX12B. Location: chromosome 17, position 7,979,005. Clinical significance in the table: Pathogenic.

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Reference-table entries

ALOX12BPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:7979005
Cytoband: 17p13.1
HGVS: NM_001139.3(ALOX12B):c.1562A>G (p.Tyr521Cys)
Allele change: Missense_Y521C

Associated conditions / phenotypes

Autosomal recessive congenital ichthyosis 2|Ichthyosis|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.