Variant (rsID / SNP)

rs120074171

rs120074171 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HGD. Location: chromosome 3, position 120,357,318. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

HGDPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:120357318
Cytoband: 3q13.33
HGVS: NM_000187.4(HGD):c.990G>T (p.Arg330Ser)
Allele change: Missense_R330S

Associated conditions / phenotypes

Alkaptonuria

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.