Variant (rsID / SNP)

rs121964909

rs121964909 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGA. Location: chromosome 4, position 178,361,494. Clinical significance in the table: Pathogenic.

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Reference-table entries

AGAPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:178361494
Cytoband: 4q34.3
HGVS: NM_000027.4(AGA):c.214T>C (p.Ser72Pro)
Allele change: Missense_S72P

Associated conditions / phenotypes

Aspartylglucosaminuria

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.