Variant (rsID / SNP)

rs145138923

rs145138923 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASL. Location: chromosome 7, position 65,546,812. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ASLPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:65546812
Cytoband: 7q11.21
HGVS: NM_000048.4(ASL):c.35G>A (p.Arg12Gln)
Allele change: Missense_R12Q

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.