Variant (rsID / SNP)

rs202194282

rs202194282 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ITPA. Location: chromosome 20, position 3,199,183. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ITPAUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 20:3199183
Cytoband: 20p13
HGVS: NM_033453.4(ITPA):c.316G>C (p.Gly106Arg)
Allele change: Silent

Associated conditions / phenotypes

Inosine triphosphatase deficiency|Developmental and epileptic encephalopathy, 35

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.