NM_130849.4(SLC39A4):c.251C>T (p.Pro84Leu) AND Hereditary acrodermatitis enteropathica
- Germline classification:
- Benign/Likely benign (4 submissions)
- Last evaluated:
- Jul 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000365601.9
Allele description [Variation Report for NM_130849.4(SLC39A4):c.251C>T (p.Pro84Leu)]
NM_130849.4(SLC39A4):c.251C>T (p.Pro84Leu)
Condition(s)
- Name:
- Hereditary acrodermatitis enteropathica (AEZ)
- Synonyms:
- Acrodermatitis enteropathica; Acrodermatitis enteropathica zinc deficiency type; Brandt syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008713; MedGen: C0221036; Orphanet: 37; OMIM: 201100
Assertion and evidence details
Last Updated: Sep 29, 2024