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NM_130849.4(SLC39A4):c.1018_1070dup (p.Thr357_His358insAlaArgSerLeuAlaSerCysCysTer) AND Hereditary acrodermatitis enteropathica

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 1, 2003
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000003721.3

Allele description [Variation Report for NM_130849.4(SLC39A4):c.1018_1070dup (p.Thr357_His358insAlaArgSerLeuAlaSerCysCysTer)]

NM_130849.4(SLC39A4):c.1018_1070dup (p.Thr357_His358insAlaArgSerLeuAlaSerCysCysTer)

Gene:
SLC39A4:solute carrier family 39 member 4 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
8q24.3
Genomic location:
Preferred name:
NM_130849.4(SLC39A4):c.1018_1070dup (p.Thr357_His358insAlaArgSerLeuAlaSerCysCysTer)
HGVS:
  • NC_000008.11:g.144414342_144414394dup
  • NG_012234.2:g.7498_7550dup
  • NM_001374839.1:c.736_788dup
  • NM_017767.3:c.943_995dup
  • NM_130849.4:c.1018_1070dupMANE SELECT
  • NP_001361768.1:p.Thr263_His264insAlaArgSerLeuAlaSerCysCysTer
  • NP_060237.3:p.Thr332_His333insAlaArgSerLeuAlaSerCysCysTer
  • NP_570901.3:p.Thr357_His358insAlaArgSerLeuAlaSerCysCysTer
  • NC_000008.10:g.145639726_145639778dup
  • NM_130849.3:c.1017_1069dup
Links:
OMIM: 607059.0010; dbSNP: rs2130797713
NCBI 1000 Genomes Browser:
rs2130797713
Molecular consequence:
  • NM_001374839.1:c.736_788dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_017767.3:c.943_995dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_130849.4:c.1018_1070dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001374839.1:c.736_788dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_017767.3:c.943_995dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_130849.4:c.1018_1070dup - nonsense - [Sequence Ontology: SO:0001587]

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000023884OMIM
no assertion criteria provided
Pathogenic
(Jun 1, 2003) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Novel SLC39A4 mutations in acrodermatitis enteropathica.

Nakano A, Nakano H, Nomura K, Toyomaki Y, Hanada K.

J Invest Dermatol. 2003 Jun;120(6):963-6.

PubMed [citation]
PMID:
12787121

Details of each submission

From OMIM, SCV000023884.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In Japanese twins with acrodermatitis enteropathica (AEZ; 201100), Nakano et al. (2003) reported a 53-bp insertion in the SLC39A4 gene (1017ins53), which created a premature termination codon. This mutation occurred in compound heterozygosity with a missense mutation (607059.0011).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023