NM_015267.4(CUX2):c.760G>A (p.Glu254Lys) AND Developmental and epileptic encephalopathy, 67

This record was updated by the submitter. Please see the current version.

Germline classification:: Benign (1 submission)
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:: RCV001353120.1

Allele description

NM_015267.4(CUX2):c.760G>A (p.Glu254Lys)

Gene:

CUX2:cut like homeobox 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.12

Genomic location:

Preferred name:

NM_015267.4(CUX2):c.760G>A (p.Glu254Lys)

HGVS:

NC_000012.12:g.111304216G>A
NG_023039.2:g.275193G>A
NM_001370598.1:c.574G>A
NM_015267.4:c.760G>AMANE SELECT
NP_001357527.1:p.Glu192Lys
NP_056082.2:p.Glu254Lys
NC_000012.11:g.111742020G>A
NM_015267.3:c.760G>A

Protein change:

E192K

Links:

dbSNP: rs1886461979

NCBI 1000 Genomes Browser:

rs1886461979

Molecular consequence:

NM_001370598.1:c.574G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_015267.4:c.760G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Developmental and epileptic encephalopathy, 67
Synonyms:: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67
Identifiers:: MONDO: MONDO:0029138; MedGen: C4748341; OMIM: 618141

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001548288	Génétique des Maladies du Développement, Hospices Civils de Lyon	no assertion criteria provided	Benign	paternal	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001548288

Génétique des Maladies du Développement, Hospices Civils de Lyon

no assertion criteria provided

Benign

paternal

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Génétique des Maladies du Développement, Hospices Civils de Lyon, SCV001548288.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		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	paternal	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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