Variant (rsID / SNP)

rs121907932

rs121907932 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALG12. Location: chromosome 22, position 50,304,114. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ALG12Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 22:50304114
Cytoband: 22q13.33
HGVS: NM_024105.4(ALG12):c.437G>A (p.Arg146Gln)
Allele change: Missense_R146Q

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.