NM_001363.4(DKC1):c.472C>T (p.Arg158Trp) AND Dyskeratosis congenita X-linked

Clinical significance:Pathogenic (Last evaluated: May 10, 2012)

Review status:(1/4)1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000032201.1

Allele description [Variation Report for NM_001363.4(DKC1):c.472C>T (p.Arg158Trp)]

Gene:
DKC1:dyskeratosis congenita 1, dyskerin [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001363.4(DKC1):c.472C>T (p.Arg158Trp)
HGVS:
  • NC_000023.11:g.154767020C>T
  • NG_009780.1:g.9265C>T
  • NM_001363.4:c.472C>T
  • NP_001354.1:p.Arg158Trp
  • LRG_55t1:c.472C>T
  • LRG_55:g.9265C>T
  • LRG_55p1:p.Arg158Trp
  • NC_000023.10:g.153995295C>T
  • NM_001363.3:c.472C>T
Protein change:
R158W
Links:
GeneReviews: NBK22301; dbSNP: 199422246
NCBI 1000 Genomes Browser:
rs199422246
Molecular consequence:
  • NM_001363.3:c.472C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Dyskeratosis congenita X-linked (DKCX)
Synonyms:
Zinsser-Cole-Engman Syndrome; Dyskeratosis Congenita; Hoyeraal Hreidarsson syndrome
Identifiers:
GeneReviews: NBK22301; MedGen: C1148551; OMIM: 305000

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000055793GeneReviewspathologic
(May 10, 2012)
not providedliterature only

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedliterature only

Details of each submission

From GeneReviews, SCV000055793.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Aug 5, 2014

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