NM_130849.4(SLC39A4):c.989G>A (p.Gly330Asp) AND Hereditary acrodermatitis enteropathica
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 1, 2002
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000003720.3
Allele description [Variation Report for NM_130849.4(SLC39A4):c.989G>A (p.Gly330Asp)]
NM_130849.4(SLC39A4):c.989G>A (p.Gly330Asp)
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
-
Spartobacteria bacterium LR76 LR76_contig_13_coverage:, whole genome shotgun seq...
Spartobacteria bacterium LR76 LR76_contig_13_coverage:, whole genome shotgun sequencegi|1378108069|gb|QAYZ01000003.1||gn :QAYZ01|LR76_contig_13_coverage:Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Apr 23, 2022