Variant (rsID / SNP)

rs149610963

rs149610963 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA12. Location: chromosome 2, position 215,848,528. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ABCA12Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:215848528
Cytoband: 2q35
HGVS: NM_173076.3(ABCA12):c.4225A>G (p.Ile1409Val)
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.