NM_025132.4(WDR19):c.3800G>A (p.Cys1267Tyr) AND Jeune thoracic dystrophy

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Jun 1, 2017)

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

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000516083.2

Allele description [Variation Report for NM_025132.4(WDR19):c.3800G>A (p.Cys1267Tyr)]

NM_025132.4(WDR19):c.3800G>A (p.Cys1267Tyr)

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.3800G>A (p.Cys1267Tyr)
HGVS:
  • NC_000004.12:g.39277103G>A
  • NG_031813.1:g.99700G>A
  • NM_001317924.2:c.3320G>A
  • NM_025132.4:c.3800G>AMANE SELECT
  • NP_001304853.1:p.Cys1107Tyr
  • NP_079408.3:p.Cys1267Tyr
  • NC_000004.11:g.39278723G>A
  • NM_025132.3:c.3800G>A
Protein change:
C1107Y
Links:
dbSNP: rs745603321
NCBI 1000 Genomes Browser:
rs745603321
Molecular consequence:
  • NM_001317924.2:c.3320G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_025132.4:c.3800G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Jeune thoracic dystrophy (ATD1)
Synonyms:
Jeune syndrome; Infantile thoracic dystrophy; Thoracic pelvic phalangeal dystrophy; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018770; MedGen: C0265275; OMIM: PS208500

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000612050Dan Cohn Lab,University Of California Los Angelesno assertion criteria providedPathogenic
(Jun 1, 2017)
maternalresearch

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

SCV001479403University of Washington Center for Mendelian Genomics, University of Washingtonno assertion criteria providedLikely pathogenicinheritedresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedresearch
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.

Zhang W, Taylor SP, Ennis HA, Forlenza KN, Duran I, Li B, Sanchez JAO, Nevarez L, Nickerson DA, Bamshad M; University of Washington Center for Mendelian Genomics., Lachman RS, Krakow D, Cohn DH.

Hum Mutat. 2018 Jan;39(1):152-166. doi: 10.1002/humu.23362. Epub 2017 Nov 6.

PubMed [citation]
PMID:
29068549
PMCID:
PMC6198324

Details of each submission

From Dan Cohn Lab,University Of California Los Angeles, SCV000612050.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot providednot providednot providednot providednot provided

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001479403.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 12, 2021

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