NM_000187.4(HGD):c.111C>T (p.Tyr37=) AND Alkaptonuria
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001417547.7
Allele description [Variation Report for NM_000187.4(HGD):c.111C>T (p.Tyr37=)]
NM_000187.4(HGD):c.111C>T (p.Tyr37=)
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
-
Mus musculus small nucleolar RNA host gene 5 (Snhg5), long non-coding RNA
Mus musculus small nucleolar RNA host gene 5 (Snhg5), long non-coding RNAgi|342837691|ref|NR_040721.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024