Variant (rsID / SNP)

rs28940287

rs28940287 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASL. Location: chromosome 7, position 65,557,065. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ASLPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:65557065
Cytoband: 7q11.21
HGVS: NM_000048.4(ASL):c.1135C>T (p.Arg379Cys)
Allele change: Missense_R379C

Associated conditions / phenotypes

Argininosuccinate 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.