Variant (rsID / SNP)

rs28940568

rs28940568 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA12. Location: chromosome 2, position 215,843,554. Clinical significance in the table: Pathogenic.

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Reference-table entries

ABCA12Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:215843554
Cytoband: 2q35
HGVS: NM_173076.3(ABCA12):c.4951G>A (p.Gly1651Ser)
Allele change: Silent

Associated conditions / phenotypes

Autosomal recessive congenital ichthyosis 4A

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.