NM_001363.4(DKC1):c.200C>T (p.Thr67Ile) AND Dyskeratosis congenita X-linked

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

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:
RCV000032198.1

Allele description [Variation Report for NM_001363.4(DKC1):c.200C>T (p.Thr67Ile)]

NM_001363.4(DKC1):c.200C>T (p.Thr67Ile)

Gene:
DKC1:dyskerin pseudouridine synthase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001363.4(DKC1):c.200C>T (p.Thr67Ile)
HGVS:
  • NC_000023.11:g.154765935C>T
  • NG_009780.1:g.8180C>T
  • NM_001363.4:c.200C>T
  • NP_001354.1:p.Thr67Ile
  • LRG_55t1:c.200C>T
  • LRG_55:g.8180C>T
  • LRG_55p1:p.Thr67Ile
  • NC_000023.10:g.153994210C>T
  • NM_001363.3:c.200C>T
  • NR_110021.1:n.901C>T
Protein change:
T67I
Links:
dbSNP: 199422244
NCBI 1000 Genomes Browser:
rs199422244
Molecular consequence:
  • NM_001363.4:c.200C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_110021.1:n.901C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000055789GeneReviewsno assertion criteria providedpathologic
(May 10, 2012)
not providedcuration

Summary from all submissions

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

Details of each submission

From GeneReviews, SCV000055789.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: May 10, 2017