Variant (rsID / SNP)

rs201429123

rs201429123 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATIC. Location: chromosome 2, position 216,214,350. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ATICUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:216214350
Cytoband: 2q35
HGVS: NM_004044.7(ATIC):c.1751A>G (p.His584Arg)
Allele change: Missense_H584R

Associated conditions / phenotypes

AICA-ribosiduria

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.