Variant (rsID / SNP)

rs199938613

rs199938613 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASL. Location: chromosome 7, position 65,548,151. Clinical significance in the table: Pathogenic.

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Reference-table entries

ASLPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:65548151
Cytoband: 7q11.21
HGVS: NM_000048.4(ASL):c.436C>T (p.Arg146Trp)
Allele change: Missense_R146W

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.