NM_001875.5(CPS1):c.186C>T (p.Gly62=) AND Congenital hyperammonemia, type I
- Germline classification:
- Conflicting interpretations of pathogenicity (3 submissions)
- Last evaluated:
- Jan 30, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000323691.16
Allele description [Variation Report for NM_001875.5(CPS1):c.186C>T (p.Gly62=)]
NM_001875.5(CPS1):c.186C>T (p.Gly62=)
Condition(s)
- Name:
- Congenital hyperammonemia, type I
- Synonyms:
- CPS I DEFICIENCY; Hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency; CPS 1 deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009376; MedGen: C4082171; Orphanet: 147; OMIM: 237300
Assertion and evidence details
Last Updated: Sep 29, 2024