Variant (rsID / SNP)

rs143083947

rs143083947 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADSL. Location: chromosome 22, position 40,742,567. 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: 22:40742567
Cytoband: 22q13.1
HGVS: NM_000026.4(ADSL):c.5C>T (p.Ala2Val)
Allele change: Missense_A2V

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.