Individual #00180163

ID_report 29286531-Pat15
Reference PubMed: Tumienė 2018
Remarks -
Gender -
Consanguinity -
Country (Slovenia)
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ?
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

unclassified / mixed (?)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000142617 epilepsy or seizures associated with neurodevelopmental disorders and/or congenital malformations mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance Epilepsy (HP:0001250), moderate intellectual disability (HP:0002342), nystagmus (HP:0000639). Head MRI: cerebellar hypoplasia (HP:0001321), corpus callosum hypoplasia (HP:0002079), oligohydramnios (HP:0001562). Familial, X-linked recessive - - - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000181066 DNA SEQ-NG - WES OPHN1 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
X Parent #1 +?/. ACMG likely pathogenic g.67430081A>G g.68210239A>G - - OPHN1_000059 - PubMed: Tumienė 2018 - - De novo - - - 0 - Johan den Dunnen OPHN1 - - - - - 9 NM_002547.2:c.746T>C - r.(?) p.(Leu249Pro) - - - - - - - - - - - - - - - - - - -
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