Variant (rsID / SNP)

rs397514527

rs397514527 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALOX12B. Location: chromosome 17, position 7,980,043. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ALOX12BPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:7980043
Cytoband: 17p13.1
HGVS: NM_001139.3(ALOX12B):c.1294C>T (p.Arg432Ter)
Allele change: Nonsense_R432X

Associated conditions / phenotypes

Autosomal recessive congenital ichthyosis 2

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.