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Variant (rsID / SNP)

rs72842957

ALOX12B

rs72842957 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALOX12B. Location: chromosome 17, position 7,984,479. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ALOX12BBenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
17:7984479
Cytoband
17p13.1
HGVS
NM_001139.3(ALOX12B):c.379C>T (p.Pro127Ser)
Allele change
Missense_P127S

Associated conditions / phenotypes

Autosomal recessive congenital ichthyosis 2

Public references

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