Variant (rsID / SNP)

rs76491548

rs76491548 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGA. Location: chromosome 4, position 178,360,811. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

AGABenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 4:178360811
Cytoband: 4q34.3
HGVS: NM_000027.4(AGA):c.313C>A (p.Leu105Ile)
Allele change: Missense_L105I

Associated conditions / phenotypes

Aspartylglucosaminuria

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.