Variant (rsID / SNP)

rs726070

rs726070 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA12. Location: chromosome 2, position 215,813,331. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ABCA12Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:215813331
Cytoband: 2q35
HGVS: NM_173076.3(ABCA12):c.7093G>A (p.Asp2365Asn)
Allele change: Silent

Associated conditions / phenotypes

Autosomal recessive congenital ichthyosis 4B|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.