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Variant (rsID / SNP)

rs756210458

ADSL

rs756210458 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADSL. Location: chromosome 22, position 40,750,270. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ADSLPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
22:40750270
Cytoband
22q13.1
HGVS
NM_000026.4(ADSL):c.421C>T (p.Arg141Trp)
Allele change
Missense_R141W

Associated conditions / phenotypes

Generalized myoclonic seizure|Progressive neurologic deterioration|Severe global developmental delay|Inability to walk|Difficulty standing|Adenylosuccinate lyase deficiency

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.