NM_002108.4(HAL):c.578C>G (p.Ser193Ter) AND Histidinemia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 18, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003135514.4
Allele description [Variation Report for NM_002108.4(HAL):c.578C>G (p.Ser193Ter)]
NM_002108.4(HAL):c.578C>G (p.Ser193Ter)
Condition(s)
- Name:
- Histidinemia
- Synonyms:
- Histidase deficiency; HIS deficiency; HAL deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009345; MedGen: C0220992; Orphanet: 2157; OMIM: 235800; Human Phenotype Ontology: HP:0010906
Assertion and evidence details
Last Updated: May 12, 2024