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

Clinical significance:Uncertain significance (Last evaluated: May 1, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000754960.2

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:
Cranioectodermal dysplasia
Synonyms:
Cranioectoderma; Sensenbrenner syndrome
Identifiers:
MONDO: MONDO:0009032; MedGen: C4551571; OMIM: PS218330

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000788386Rare Disease Group, Clinical Genetics,Karolinska Institutetcriteria provided, single submitter
Uncertain significance
(May 1, 2018)
unknownresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Rare Disease Group, Clinical Genetics,Karolinska Institutet, SCV000788386.1

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

Last Updated: Oct 8, 2021

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