Variant (rsID / SNP)

rs12575909

rs12575909 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALG9. Location: chromosome 11, position 111,680,496. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ALG9Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:111680496
Cytoband: 11q23.1
HGVS: NM_024740.2(ALG9):c.1604T>G (p.Ile535Ser)
Allele change: Missense_I316S

Associated conditions / phenotypes

ALG9 congenital disorder of glycosylation

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.