NM_006579.2(EBP):c.587G>A (p.Trp196Ter) AND Chondrodysplasia punctata 2 X-linked dominant

Clinical significance:Pathogenic (Last evaluated: Oct 2, 2000)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000012246.24

Allele description [Variation Report for NM_006579.2(EBP):c.587G>A (p.Trp196Ter)]

NM_006579.2(EBP):c.587G>A (p.Trp196Ter)

Gene:
EBP:emopamil binding protein (sterol isomerase) [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.23
Genomic location:
Preferred name:
NM_006579.2(EBP):c.587G>A (p.Trp196Ter)
HGVS:
  • NC_000023.11:g.48528351G>A
  • NG_007452.1:g.11576G>A
  • NM_006579.2:c.587G>A
  • NP_006570.1:p.Trp196Ter
  • NC_000023.10:g.48386739G>A
Protein change:
W196*; TRP196TER
Links:
OMIM: 300205.0011; dbSNP: 104894794
NCBI 1000 Genomes Browser:
rs104894794
Molecular consequence:
  • NM_006579.2:c.587G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Chondrodysplasia punctata 2 X-linked dominant (CDPX2)
Synonyms:
CONRADI-HUNERMANN-HAPPLE SYNDROME; Hunermann-Conradi Syndrome
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
SCV000032480OMIMno assertion criteria providedPathogenic
(Oct 2, 2000)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata.

Ikegawa S, Ohashi H, Ogata T, Honda A, Tsukahara M, Kubo T, Kimizuka M, Shimode M, Hasegawa T, Nishimura G, Nakamura Y.

Am J Med Genet. 2000 Oct 2;94(4):300-5. Review.

PubMed [citation]
PMID:
11038443

Details of each submission

From OMIM, SCV000032480.1

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

Description

Ikegawa et al. (2000) reported an isolated Japanese case with typical CDPX2 (302960) with a 698G-A nucleotide change in exon 5 of the EBP gene, predicted to cause a trp196-to-ter (W196X) alteration in the protein.

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

Last Updated: Sep 5, 2017