Variant (rsID / SNP)

rs11890512

rs11890512 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA12. Location: chromosome 2, position 215,910,724. 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: 2:215910724
Cytoband: 2q35
HGVS: NM_173076.3(ABCA12):c.709A>C (p.Asn237His)
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.