NM_001139.2(ALOX12B):c.1562A>G (p.Tyr521Cys) AND Ichthyosis

Clinical significance:Pathogenic (Last evaluated: Jun 22, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000414880.1

Allele description

NM_001139.2(ALOX12B):c.1562A>G (p.Tyr521Cys)

Gene:
ALOX12B:arachidonate 12-lipoxygenase, 12R type [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_001139.2(ALOX12B):c.1562A>G (p.Tyr521Cys)
HGVS:
  • NC_000017.11:g.8075687T>C
  • NG_007099.1:g.17017A>G
  • NM_001139.2:c.1562A>G
  • NP_001130.1:p.Tyr521Cys
  • NC_000017.10:g.7979005T>C
  • O75342:p.Tyr521Cys
Protein change:
Y521C; TYR521CYS
Links:
UniProtKB: O75342#VAR_069556; OMIM: 603741.0012; dbSNP: rs199766569
NCBI 1000 Genomes Browser:
rs199766569
Allele Frequency:
0.00027(C)
Molecular consequence:
  • NM_001139.2:c.1562A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Ichthyosis
Synonyms:
Hypertrophic ichthyosis; Ichthyosiform abnormality of the skin; Ichthyotic skin
Identifiers:
MedGen: C0020757; Human Phenotype Ontology: HP:0008064

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000492887Centre for Mendelian Genomics,University Medical Centre Ljubljanacriteria provided, single submitter
Pathogenic
(Jun 22, 2015)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Centre for Mendelian Genomics,University Medical Centre Ljubljana, SCV000492887.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 20, 2018

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