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Variant (rsID / SNP)

rs397514532

ALOX12B

rs397514532 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALOX12B. Location: chromosome 17, position 7,978,925. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ALOX12BConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:7978925
Cytoband
17p13.1
HGVS
NM_001139.3(ALOX12B):c.1642C>T (p.Arg548Trp)
Allele change
Missense_R548W

Associated conditions / phenotypes

Autosomal recessive congenital ichthyosis 2|Congenital ichthyosiform erythroderma|Congenital nonbullous ichthyosiform erythroderma

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.