NM_001002294.3(FMO3):c.994A>G (p.Ser332Gly) AND Trimethylaminuria
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000406247.5
Allele description [Variation Report for NM_001002294.3(FMO3):c.994A>G (p.Ser332Gly)]
NM_001002294.3(FMO3):c.994A>G (p.Ser332Gly)
Condition(s)
- Name:
- Trimethylaminuria (TMAU)
- Synonyms:
- FISH-ODOR SYNDROME; Fish malodor syndrome; Stale fish syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011182; MedGen: C0342739; OMIM: 602079; Human Phenotype Ontology: HP:0003614
Assertion and evidence details
Last Updated: Jul 16, 2023