NM_014795.4(ZEB2):c.227_233del (p.Gln76fs) AND Mowat-Wilson syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 2, 2015
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000169712.1

Allele description [Variation Report for NM_014795.4(ZEB2):c.227_233del (p.Gln76fs)]

NM_014795.4(ZEB2):c.227_233del (p.Gln76fs)

Gene:

ZEB2:zinc finger E-box binding homeobox 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2q22.3

Genomic location:

Preferred name:

NM_014795.4(ZEB2):c.227_233del (p.Gln76fs)

HGVS:

NC_000002.12:g.144429867_144429873del
NG_016431.1:g.95519_95525del
NM_001171653.2:c.227_233del
NM_014795.4:c.227_233delMANE SELECT
NP_001165124.1:p.Gln76fs
NP_055610.1:p.Gln76fs
NC_000002.11:g.145187434_145187440del
NM_014795.3:c.227_233delAAGCTCT
p.Gln76Argfs*11

Protein change:

Q76fs

Links:

dbSNP: rs786204812

NCBI 1000 Genomes Browser:

rs786204812

Molecular consequence:

NM_001171653.2:c.227_233del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_014795.4:c.227_233del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Mowat-Wilson syndrome (MOWS)
Identifiers:: MONDO: MONDO:0009341; MedGen: C1856113; Orphanet: 2152; OMIM: 235730

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000221251	Molecular Genetics Laboratory, Children's Mercy Hospital and Clinics	no assertion criteria provided	Pathogenic (Mar 2, 2015)	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000221251

Molecular Genetics Laboratory, Children's Mercy Hospital and Clinics

no assertion criteria provided

Pathogenic
(Mar 2, 2015)

unknown

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Molecular Genetics Laboratory, Children's Mercy Hospital and Clinics, SCV000221251.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 16, 2025

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