NM_004626.3(WNT11):c.947G>A (p.Arg316His) AND Exstrophy-epispadias complex

Clinical significance:Uncertain significance (Last evaluated: Mar 31, 2015)

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:
RCV000172903.1

Allele description [Variation Report for NM_004626.3(WNT11):c.947G>A (p.Arg316His)]

NM_004626.3(WNT11):c.947G>A (p.Arg316His)

Gene:
WNT11:Wnt family member 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.5
Genomic location:
Preferred name:
NM_004626.3(WNT11):c.947G>A (p.Arg316His)
HGVS:
  • NC_000011.10:g.76187183C>T
  • NG_046931.1:g.31826G>A
  • NM_004626.3:c.947G>AMANE SELECT
  • NP_004617.2:p.Arg316His
  • NC_000011.9:g.75898227C>T
  • NM_004626.2:c.947G>A
Protein change:
R316H
Links:
dbSNP: rs758816226
NCBI 1000 Genomes Browser:
rs758816226
Molecular consequence:
  • NM_004626.3:c.947G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Exstrophy-epispadias complex (BEEC)
Synonyms:
Exstrophy of the bladder-epispadias; Bladder exstrophy and epispadias complex
Identifiers:
MONDO: MONDO:0017919; MedGen: C1838703; Orphanet: 322; Orphanet: 93930; OMIM: 600057

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000221318Karolinska institutetno assertion criteria providedUncertain significance
(Mar 31, 2015)
inheritedresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Karolinska institutet, SCV000221318.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 7, 2021

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