Variant (rsID / SNP)

rs119450943

rs119450943 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADSL. Location: chromosome 22, position 40,760,956. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ADSLUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 22:40760956
Cytoband: 22q13.1
HGVS: NM_000026.4(ADSL):c.1264G>T (p.Asp422Tyr)
Allele change: Missense_D422Y

Associated conditions / phenotypes

Adenylosuccinate lyase deficiency

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.