Variant (rsID / SNP)

rs137853024

rs137853024 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALOX12B. Location: chromosome 17, position 7,976,996. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ALOX12BPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:7976996
Cytoband: 17p13.1
HGVS: NM_001139.3(ALOX12B):c.1734C>A (p.His578Gln)
Allele change: Missense_H578Q

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.