Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs36111204

ALG9

rs36111204 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALG9. Location: chromosome 11, position 111,728,332. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

ALG9Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:111728332
Cytoband
11q23.1
HGVS
NM_024740.2(ALG9):c.694G>C (p.Ala232Pro)
Allele change
Missense_A61P

Associated conditions / phenotypes

Gillessen-Kaesbach-Nishimura syndrome|ALG9 congenital disorder of glycosylation|Autosomal dominant polycystic liver disease|ALG9 congenital disorder of glycosylation|See cases

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.