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Variant (rsID / SNP)

rs28940269

ABCA12

rs28940269 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA12. Location: chromosome 2, position 215,851,290. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ABCA12Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
2:215851290
Cytoband
2q35
HGVS
NM_173076.3(ABCA12):c.4139A>G (p.Asn1380Ser)
Allele change
Silent

Associated conditions / phenotypes

Autosomal recessive congenital ichthyosis 4A|Autosomal recessive congenital ichthyosis 4B|Autosomal recessive congenital ichthyosis 4A

Public references

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