Variant (rsID / SNP)

rs16853238

rs16853238 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA12. Location: chromosome 2, position 215,914,446. Clinical significance in the table: Benign.

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Reference-table entries

ABCA12Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:215914446
Cytoband: 2q35
HGVS: NM_173076.3(ABCA12):c.597G>C (p.Trp199Cys)
Allele change: Silent

Associated conditions / phenotypes

Congenital ichthyosis of skin

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.