NM_206965.2(FTCD):c.1234G>A (p.Asp412Asn) AND Glutamate formiminotransferase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003873438.2
Allele description [Variation Report for NM_206965.2(FTCD):c.1234G>A (p.Asp412Asn)]
NM_206965.2(FTCD):c.1234G>A (p.Asp412Asn)
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: Sep 29, 2024