NM_004493.3(HSD17B10):c.253G>A (p.Val85Met) AND HSD10 mitochondrial disease
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 7, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000714830.3
Allele description [Variation Report for NM_004493.3(HSD17B10):c.253G>A (p.Val85Met)]
NM_004493.3(HSD17B10):c.253G>A (p.Val85Met)
Condition(s)
- Name:
- HSD10 mitochondrial disease (HSD10MD)
- Synonyms:
- HSD17B10 DEFICIENCY; 2-methyl-3-hydroxybutyric aciduria; HSD10 deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010327; MedGen: C3266731; Orphanet: 391417; Orphanet: 85295; OMIM: 300438
Assertion and evidence details
Last Updated: Jul 29, 2023