Variant (rsID / SNP)

rs3922872

rs3922872 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALG12. Location: chromosome 22, position 50,297,888. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ALG12Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 22:50297888
Cytoband: 22q13.33
HGVS: NM_024105.4(ALG12):c.1177A>G (p.Ile393Val)
Allele change: Missense_I393V

Associated conditions / phenotypes

ALG12-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.