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NM_021628.3(ALOXE3):c.1630C>T (p.Gln544Ter) AND Lamellar ichthyosis

Germline classification:
Likely pathogenic (1 submission)
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:
RCV001291298.1

Allele description [Variation Report for NM_021628.3(ALOXE3):c.1630C>T (p.Gln544Ter)]

NM_021628.3(ALOXE3):c.1630C>T (p.Gln544Ter)

Gene:
ALOXE3:arachidonate epidermal lipoxygenase 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_021628.3(ALOXE3):c.1630C>T (p.Gln544Ter)
HGVS:
  • NC_000017.11:g.8108522G>A
  • NG_015807.1:g.15395C>T
  • NM_001165960.1:c.2026C>T
  • NM_001369446.1:c.1627C>T
  • NM_021628.3:c.1630C>TMANE SELECT
  • NP_001159432.1:p.Gln676Ter
  • NP_001356375.1:p.Gln543Ter
  • NP_067641.2:p.Gln544Ter
  • NP_067641.2:p.Gln544Ter
  • NC_000017.10:g.8011840G>A
  • NM_021628.2:c.1630C>T
Protein change:
Q543*
Links:
dbSNP: rs781631629
NCBI 1000 Genomes Browser:
rs781631629
Molecular consequence:
  • NM_001165960.1:c.2026C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369446.1:c.1627C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_021628.3:c.1630C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Lamellar ichthyosis
Identifiers:
MONDO: MONDO:0017778; MedGen: C5848247

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001479770University of Washington Center for Mendelian Genomics, University of Washington
no assertion criteria provided
Likely pathogenicinheritedresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.

Shah K, Mehmood S, Jan A, Abbe I, Hussain Ali R, Khan A, Chishti MS, Lee K, Ahmad F, Ansar M; University of Washington Center for Mendelian Genomics., Shahzad S, Nickerson DA, Bamshad MJ, Coucke PJ, Santos-Cortez RLP, Spritz RA, Leal SM, Ahmad W.

Int J Dermatol. 2017 Dec;56(12):1406-1413. doi: 10.1111/ijd.13778.

PubMed [citation]
PMID:
29130490
PMCID:
PMC6094939

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001479770.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024