Variant (rsID / SNP)

rs387906284

rs387906284 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA12. Location: chromosome 2, position 215,809,745. Clinical significance in the table: Pathogenic.

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Reference-table entries

ABCA12Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 2:215809745
Cytoband: 2q35
HGVS: NM_173076.3(ABCA12):c.7323del (p.Val2442fs)

Associated conditions / phenotypes

Autosomal recessive congenital ichthyosis 4B

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.