Variant (rsID / SNP)

rs148157596

rs148157596 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AUH. Location: chromosome 9, position 93,983,254. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

AUHUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 9:93983254
Cytoband: 9q22.31
HGVS: NM_001698.3(AUH):c.676C>T (p.Arg226Cys)
Allele change: Missense_R226C

Associated conditions / phenotypes

3-methylglutaconic aciduria type 1

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.