NM_000187.4(HGD):c.1191A>G (p.Ala397=) AND Alkaptonuria
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003607053.1
Allele description [Variation Report for NM_000187.4(HGD):c.1191A>G (p.Ala397=)]
NM_000187.4(HGD):c.1191A>G (p.Ala397=)
Condition(s)
- Name:
- Alkaptonuria (AKU)
- Synonyms:
- Alcaptonuria; Ochronosis, hereditary; Homogentisic acid oxidase deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008753; MedGen: C0002066; Orphanet: 56; OMIM: 203500
Assertion and evidence details
Last Updated: Feb 28, 2024