NM_130849.4(SLC39A4):c.276C>T (p.Tyr92=) AND Hereditary acrodermatitis enteropathica
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000397969.7
Allele description [Variation Report for NM_130849.4(SLC39A4):c.276C>T (p.Tyr92=)]
NM_130849.4(SLC39A4):c.276C>T (p.Tyr92=)
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
-
ribosomal protein S18, isoform B [Drosophila melanogaster]
ribosomal protein S18, isoform B [Drosophila melanogaster]gi|24656100|ref|NP_725943.1|Protein
-
type I keratin 16 [Homo sapiens]
type I keratin 16 [Homo sapiens]gi|1195531|gb|AAB35421.1||bbm|37837 |172338Protein
-
Homo sapiens anion exchange protein 1 (SLC4A1) gene, SLC4A1-DI2var3 allele, exon...
Homo sapiens anion exchange protein 1 (SLC4A1) gene, SLC4A1-DI2var3 allele, exons 18, 19 and partial cdsgi|306996593|gb|HQ014596.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Feb 28, 2024