NM_000187.4(HGD):c.775-15G>T AND Alkaptonuria
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003501569.1
Allele description [Variation Report for NM_000187.4(HGD):c.775-15G>T]
NM_000187.4(HGD):c.775-15G>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
-
proline and serine-rich protein 3 isoform X18 [Homo sapiens]
proline and serine-rich protein 3 isoform X18 [Homo sapiens]gi|768006897|ref|XP_011524838.1|Protein
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024