Variant (rsID / SNP)

rs121907933

rs121907933 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALG12. Location: chromosome 22, position 50,304,250. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ALG12Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 22:50304250
Cytoband: 22q13.33
HGVS: NM_024105.4(ALG12):c.301G>A (p.Gly101Arg)
Allele change: Missense_G101R

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.