NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) 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:
RCV000850617.1

Allele description [Variation Report for NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln)]

NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln)

Gene:
WDR19:WD repeat domain 19 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p14
Genomic location:
Preferred name:
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln)
HGVS:
  • NC_000004.12:g.39273029G>A
  • NG_031813.1:g.95626G>A
  • NM_001317924.2:c.3053G>A
  • NM_025132.4:c.3533G>AMANE SELECT
  • NP_001304853.1:p.Arg1018Gln
  • NP_079408.3:p.Arg1178Gln
  • NC_000004.11:g.39274649G>A
  • NM_025132.3:c.3533G>A
  • Q8NEZ3:p.Arg1178Gln
Protein change:
R1018Q; ARG1178GLN
Links:
UniProtKB: Q8NEZ3#VAR_073678; OMIM: 608151.0010; dbSNP: rs79436363
NCBI 1000 Genomes Browser:
rs79436363
Molecular consequence:
  • NM_001317924.2:c.3053G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_025132.4:c.3533G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000992850Baylor Geneticscriteria provided, single submitter
Pathogenic
(Dec 31, 2017)
germlineclinical testing

PubMed (4)
[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

Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney.

Lee JM, Ahn YH, Kang HG, Ha II, Lee K, Moon KC, Lee JH, Park YS, Cho YM, Bae JS, Kim NK, Park WY, Cheong HI.

Pediatr Nephrol. 2015 Sep;30(9):1451-8. doi: 10.1007/s00467-015-3068-8. Epub 2015 Mar 1.

PubMed [citation]
PMID:
25726036
See all PubMed Citations (4)

Details of each submission

From Baylor Genetics, SCV000992850.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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