NM_000187.4(HGD):c.87+8C>T AND Alkaptonuria
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003500875.2
Allele description [Variation Report for NM_000187.4(HGD):c.87+8C>T]
NM_000187.4(HGD):c.87+8C>T
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
-
long-chain-fatty-acid--CoA ligase ACSBG1 isoform X1 [Mus musculus]
long-chain-fatty-acid--CoA ligase ACSBG1 isoform X1 [Mus musculus]gi|1720433361|ref|XP_030100613.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024