Variant (rsID / SNP)

rs8192461

rs8192461 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADSL. Location: chromosome 22, position 40,757,509. Clinical significance in the table: Benign.

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Reference-table entries

ADSLBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 22:40757509
Cytoband: 22q13.1
HGVS: NM_000026.4(ADSL):c.880T>C (p.Tyr294His)
Allele change: Missense_Y294H

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.