NM_025132.4(WDR19):c.781dup (p.Thr261fs) AND multiple conditions

Clinical significance:Pathogenic (Last evaluated: Dec 31, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000850616.1

Allele description [Variation Report for NM_025132.4(WDR19):c.781dup (p.Thr261fs)]

NM_025132.4(WDR19):c.781dup (p.Thr261fs)

Gene:
WDR19:WD repeat domain 19 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
4p14
Genomic location:
Preferred name:
NM_025132.4(WDR19):c.781dup (p.Thr261fs)
HGVS:
  • NC_000004.11:g.39207246_39207247insA
  • NC_000004.12:g.39205627dup
  • NG_031813.1:g.28224dup
  • NM_001317924.2:c.301dup
  • NM_025132.4:c.781dupMANE SELECT
  • NP_001304853.1:p.Thr101fs
  • NP_079408.3:p.Thr261fs
  • NC_000004.11:g.39207246_39207247insA
  • NC_000004.11:g.39207247dup
  • NC_000004.11:g.39207247dupA
  • NM_025132.3:c.781dup
  • NM_025132.3:c.781dupA
Protein change:
T101fs
Links:
dbSNP: rs748656635
NCBI 1000 Genomes Browser:
rs748656635
Molecular consequence:
  • NM_001317924.2:c.301dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_025132.4:c.781dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Nephronophthisis 13 (NPHP13)
Identifiers:
MONDO: MONDO:0013718; MedGen: C3280612; Orphanet: 655; OMIM: 614377
Name:
Senior-Loken syndrome 8 (SLSN8)
Identifiers:
MONDO: MONDO:0014579; MedGen: C4225376; Orphanet: 3156; OMIM: 616307

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000992849Baylor Geneticscriteria provided, single submitter
Pathogenic
(Dec 31, 2017)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.

Halbritter J, Porath JD, Diaz KA, Braun DA, Kohl S, Chaki M, Allen SJ, Soliman NA, Hildebrandt F, Otto EA; GPN Study Group..

Hum Genet. 2013 Aug;132(8):865-84. doi: 10.1007/s00439-013-1297-0. Epub 2013 Apr 5.

PubMed [citation]
PMID:
23559409
PMCID:
PMC4643834

WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.

Coussa RG, Otto EA, Gee HY, Arthurs P, Ren H, Lopez I, Keser V, Fu Q, Faingold R, Khan A, Schwartzentruber J, Majewski J, Hildebrandt F, Koenekoop RK.

Clin Genet. 2013 Aug;84(2):150-9. doi: 10.1111/cge.12196.

PubMed [citation]
PMID:
23683095
PMCID:
PMC3904424
See all PubMed Citations (3)

Details of each submission

From Baylor Genetics, SCV000992849.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 10, 2021

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