Variant (rsID / SNP)

rs2228415

rs2228415 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADSL. Location: chromosome 22, position 40,742,686. 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: 22:40742686
Cytoband: 22q13.1
HGVS: NM_000026.4(ADSL):c.124C>T (p.Leu42=)
Allele change: Synonymous_L42L

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.