NM_000187.4(HGD):c.765T>C (p.Ala255=) AND Alkaptonuria
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Nov 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000387482.13
Allele description [Variation Report for NM_000187.4(HGD):c.765T>C (p.Ala255=)]
NM_000187.4(HGD):c.765T>C (p.Ala255=)
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 20, 2024