HGD Chromosome 3

Homogentisate 1,2-dioxygenase

247 variants 247 Health Risk

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What This Gene Does

This gene encodes the enzyme homogentisate 1,2 dioxygenase. This enzyme is involved in the catabolism of the amino acids tyrosine and phenylalanine. Mutations in this gene are the cause of the autosomal recessive metabolism disorder alkaptonuria.[provided by RefSeq, May 2010]

Associated Conditions (9)

Alkaptonuria

Colon adenocarcinoma

HGD-related disorder

See cases

Gastric cancer

Clear cell carcinoma of kidney

Familial cancer of breast

Nonpapillary renal cell carcinoma

Familial prostate cancer

Key Variants

RS140500816

Conflicting classifications of pathogenicity

Alkaptonuria, Alkaptonuria

Health Risk

RS1417213536

Conflicting classifications of pathogenicity

Alkaptonuria, Alkaptonuria

Health Risk

RS141965690

Conflicting classifications of pathogenicity

Alkaptonuria, Alkaptonuria

Health Risk

RS143370662

Conflicting classifications of pathogenicity

Alkaptonuria, Alkaptonuria

Health Risk

RS143556739

Conflicting classifications of pathogenicity

Alkaptonuria, Alkaptonuria

Health Risk

RS1553715351

Conflicting classifications of pathogenicity

Alkaptonuria, Alkaptonuria

Health Risk

RS1553717936

Conflicting classifications of pathogenicity

Alkaptonuria, Alkaptonuria

Health Risk

RS200412910

Conflicting classifications of pathogenicity

Alkaptonuria, Alkaptonuria

Health Risk

RS2293734

Conflicting classifications of pathogenicity

Alkaptonuria, Alkaptonuria

Health Risk

RS368805723

Conflicting classifications of pathogenicity

Alkaptonuria, Alkaptonuria

Health Risk

RS541268108

Conflicting classifications of pathogenicity

Alkaptonuria, Alkaptonuria

Health Risk

RS559502955

Conflicting classifications of pathogenicity

Alkaptonuria, Alkaptonuria

Health Risk

All Variants (247)

RSID	Category	Clinical Significance	Conditions
RS140500816	Health Risk	Conflicting classifications of pathogenicity	Alkaptonuria, Alkaptonuria
RS1417213536	Health Risk	Conflicting classifications of pathogenicity	Alkaptonuria, Alkaptonuria
RS141965690	Health Risk	Conflicting classifications of pathogenicity	Alkaptonuria, Alkaptonuria
RS143370662	Health Risk	Conflicting classifications of pathogenicity	Alkaptonuria, Alkaptonuria
RS143556739	Health Risk	Conflicting classifications of pathogenicity	Alkaptonuria, Alkaptonuria
RS1553715351	Health Risk	Conflicting classifications of pathogenicity	Alkaptonuria, Alkaptonuria
RS1553717936	Health Risk	Conflicting classifications of pathogenicity	Alkaptonuria, Alkaptonuria
RS200412910	Health Risk	Conflicting classifications of pathogenicity	Alkaptonuria, Alkaptonuria
RS2293734	Health Risk	Conflicting classifications of pathogenicity	Alkaptonuria, Alkaptonuria
RS368805723	Health Risk	Conflicting classifications of pathogenicity	Alkaptonuria, Alkaptonuria
RS541268108	Health Risk	Conflicting classifications of pathogenicity	Alkaptonuria, Alkaptonuria
RS559502955	Health Risk	Conflicting classifications of pathogenicity	Alkaptonuria, Alkaptonuria
RS747764475	Health Risk	Conflicting classifications of pathogenicity	Alkaptonuria, Alkaptonuria
RS756255206	Health Risk	Conflicting classifications of pathogenicity	Alkaptonuria, Alkaptonuria
RS756789146	Health Risk	Conflicting classifications of pathogenicity	Alkaptonuria, Alkaptonuria
RS759101002	Health Risk	Conflicting classifications of pathogenicity	Alkaptonuria, Alkaptonuria
RS759615683	Health Risk	Conflicting classifications of pathogenicity	Alkaptonuria, Alkaptonuria
RS764037565	Health Risk	Conflicting classifications of pathogenicity	Alkaptonuria, Alkaptonuria
RS768308376	Health Risk	Conflicting classifications of pathogenicity	Alkaptonuria, Alkaptonuria
RS769000073	Health Risk	Conflicting classifications of pathogenicity	Alkaptonuria, Alkaptonuria
RS781011621	Health Risk	Conflicting classifications of pathogenicity	Alkaptonuria, Alkaptonuria
RS781667761	Health Risk	Conflicting classifications of pathogenicity	Alkaptonuria, Alkaptonuria
RS981454067	Health Risk	Conflicting classifications of pathogenicity	Alkaptonuria, Alkaptonuria
RS1031569954	Health Risk	Likely pathogenic	Alkaptonuria, Alkaptonuria
RS1056909521	Health Risk	Likely pathogenic	Alkaptonuria, Alkaptonuria
RS1057516352	Health Risk	Likely pathogenic	Alkaptonuria, Alkaptonuria
RS1057516662	Health Risk	Likely pathogenic	Alkaptonuria, Alkaptonuria
RS1057516847	Health Risk	Likely pathogenic	Alkaptonuria, Alkaptonuria
RS1057516849	Health Risk	Likely pathogenic	Alkaptonuria, Alkaptonuria
RS1057516921	Health Risk	Likely pathogenic	Alkaptonuria, Alkaptonuria
RS1057517089	Health Risk	Likely pathogenic	Alkaptonuria, Alkaptonuria
RS1057517370	Health Risk	Likely pathogenic	Alkaptonuria, Alkaptonuria, Alkaptonuria
RS1057517418	Health Risk	Likely pathogenic	Alkaptonuria, Alkaptonuria
RS1168687230	Health Risk	Likely pathogenic	Alkaptonuria, Alkaptonuria
RS120074172	Health Risk	Likely pathogenic	Alkaptonuria, Alkaptonuria
RS1243059404	Health Risk	Likely pathogenic	Alkaptonuria, Alkaptonuria
RS1357020990	Health Risk	Likely pathogenic	Alkaptonuria, Alkaptonuria
RS1397264922	Health Risk	Likely pathogenic	Alkaptonuria, Alkaptonuria
RS1398420804	Health Risk	Likely pathogenic	Alkaptonuria, Alkaptonuria, Alkaptonuria
RS1553716979	Health Risk	Likely pathogenic	Alkaptonuria, Alkaptonuria
RS1553721599	Health Risk	Likely pathogenic	—
RS1576294110	Health Risk	Likely pathogenic	Alkaptonuria, Alkaptonuria
RS1708095030	Health Risk	Likely pathogenic	Alkaptonuria, Alkaptonuria
RS1940645842	Health Risk	Likely pathogenic	Alkaptonuria, Alkaptonuria
RS1941163113	Health Risk	Likely pathogenic	Alkaptonuria, Alkaptonuria
RS1941187762	Health Risk	Likely pathogenic	Alkaptonuria, Alkaptonuria
RS1941316527	Health Risk	Likely pathogenic	Alkaptonuria, Alkaptonuria
RS2107489383	Health Risk	Likely pathogenic	Alkaptonuria, Alkaptonuria
RS2107502859	Health Risk	Likely pathogenic	Alkaptonuria, Alkaptonuria
RS2107510544	Health Risk	Likely pathogenic	Alkaptonuria, Alkaptonuria

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