Variant (rsID / SNP)

rs147149459

rs147149459 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALOXE3. Location: chromosome 17, position 8,006,708. Clinical significance in the table: Pathogenic.

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Reference-table entries

ALOXE3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:8006708
Cytoband: 17p13.1
HGVS: NM_021628.3(ALOXE3):c.1889C>T (p.Pro630Leu)
Allele change: Missense_P762L

Associated conditions / phenotypes

Autosomal recessive congenital ichthyosis 3|Autosomal recessive congenital 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.