Variant (rsID / SNP)

rs28942100

rs28942100 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HGD. Location: chromosome 3, position 120,363,252. 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: 3:120363252
Cytoband: 3q13.33
HGVS: NM_000187.4(HGD):c.688C>T (p.Pro230Ser)
Allele change: Missense_P230S

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.