NM_001849.4(COL6A2):c.*119A>G AND Glutamate formiminotransferase deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000360015.5
Allele description [Variation Report for NM_001849.4(COL6A2):c.*119A>G]
NM_001849.4(COL6A2):c.*119A>G
Condition(s)
- Name:
- Glutamate formiminotransferase deficiency
- Synonyms:
- Formiminotransferase deficiency syndrome; Formiminoglutamicaciduria (FIGLU-uria); Formiminoglutamic acidemia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009240; MedGen: C0268609; Orphanet: 51208; OMIM: 229100
Assertion and evidence details
Last Updated: Dec 24, 2023