Variant (rsID / SNP)

rs28941471

rs28941471 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADSL. Location: chromosome 22, position 40,754,954. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ADSLConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 22:40754954
Cytoband: 22q13.1
HGVS: NM_000026.4(ADSL):c.569G>A (p.Arg190Gln)
Allele change: Missense_R190Q

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.