Variant (rsID / SNP)

rs121434478

rs121434478 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATIC. Location: chromosome 2, position 216,209,551. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ATICConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 2:216209551
Cytoband: 2q35
HGVS: NM_004044.7(ATIC):c.1277A>G (p.Lys426Arg)
Allele change: Missense_K426R

Associated conditions / phenotypes

AICA-ribosiduria|Macular dystrophy

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.