Variant (rsID / SNP)

rs146432805

rs146432805 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALG11, UTP14C. Location: chromosome 13, position 52,598,973. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ALG11Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 13:52598973
Cytoband: 13q14.3
HGVS: NM_001004127.3(ALG11):c.1107T>C (p.Tyr369=)
Allele change: Silent

Associated conditions / phenotypes

ALG11-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.