Variant (rsID / SNP)

rs7874056

rs7874056 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AUH. Location: chromosome 9, position 94,087,622. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

AUHBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 9:94087622
Cytoband: 9q22.31
HGVS: NM_001698.3(AUH):c.483A>C (p.Ile161=)
Allele change: Synonymous_I161I

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.