Variant (rsID / SNP)

rs120074173

rs120074173 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HGD. Location: chromosome 3, position 120,352,080. Clinical significance in the table: Pathogenic.

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Reference-table entries

HGDPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:120352080
Cytoband: 3q13.33
HGVS: NM_000187.4(HGD):c.1102A>G (p.Met368Val)
Allele change: Missense_M368V

Associated conditions / phenotypes

Alkaptonuria|Intervertebral disk calcification

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.