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NM_001014283.2(DCUN1D2):c.38G>A (p.Arg13His) AND Epidermolysis bullosa simplex with nail dystrophy

Germline classification:
Uncertain significance (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:
RCV001089668.1

Allele description [Variation Report for NM_001014283.2(DCUN1D2):c.38G>A (p.Arg13His)]

NM_001014283.2(DCUN1D2):c.38G>A (p.Arg13His)

Gene:
DCUN1D2:defective in cullin neddylation 1 domain containing 2 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q34
Genomic location:
Preferred name:
NM_001014283.2(DCUN1D2):c.38G>A (p.Arg13His)
HGVS:
  • NC_000013.11:g.113484022C>T
  • NM_001014283.2:c.38G>AMANE SELECT
  • NP_001014305.1:p.Arg13His
  • NC_000013.10:g.114138337C>T
Protein change:
R13H
Links:
dbSNP: rs761173109
NCBI 1000 Genomes Browser:
rs761173109
Molecular consequence:
  • NM_001014283.2:c.38G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Epidermolysis bullosa simplex with nail dystrophy (EBS5D)
Identifiers:
MONDO: MONDO:0014661; MedGen: C4225309; OMIM: 616487

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001194287Department of Molecular Biology and Genetics, Istanbul Technical University
no assertion criteria provided
Uncertain significanceunknownresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Department of Molecular Biology and Genetics, Istanbul Technical University, SCV001194287.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023