NM_006579.3(EBP):c.382C>T (p.Leu128=) AND Chondrodysplasia punctata 2 X-linked dominant

Clinical significance:Uncertain significance (Last evaluated: Feb 8, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000145939.1

Allele description [Variation Report for NM_006579.3(EBP):c.382C>T (p.Leu128=)]

NM_006579.3(EBP):c.382C>T (p.Leu128=)

Gene:
EBP:EBP cholestenol delta-isomerase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.23
Genomic location:
Preferred name:
NM_006579.3(EBP):c.382C>T (p.Leu128=)
HGVS:
  • NC_000023.11:g.48527198C>T
  • NG_007452.1:g.10423C>T
  • NM_006579.3:c.382C>TMANE SELECT
  • NP_006570.1:p.Leu128=
  • NC_000023.10:g.48385586C>T
  • NM_006579.2:c.382C>T
Links:
dbSNP: rs142881014
NCBI 1000 Genomes Browser:
rs142881014
Molecular consequence:
  • NM_006579.3:c.382C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Chondrodysplasia punctata 2 X-linked dominant (CDPX2)
Synonyms:
CONRADI-HUNERMANN-HAPPLE SYNDROME; Happle syndrome; Conrad Hunermann Happle syndrome; See all synonyms [MedGen]
Identifiers:
MedGen: C0282102; Orphanet: 35173; OMIM: 302960

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000193077Genetic Services Laboratory, University of Chicagocriteria provided, single submitter
Uncertain significance
(Feb 8, 2013)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]
PMID:
18414213

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000193077.1

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

Last Updated: Jun 14, 2021

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