Individual #00179779

ID_report -
Reference Redeker; PubMed: Oliveira 2010
Remarks -
Gender F
Consanguinity -
Country Sweden
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases CDLS
Owner name Bert Redeker
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Jorge Oliveira


Phenotypes

Cornelia de Lange syndrome (CDLS) (CDLS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Growth     

Head/Size     

MotorSkills     

Speech     

Cleft     

Protein     

Abnormality     

Hirsutism     

Intellectual_dis     

Owner     
0000142233 - Cornelia de Lange syndrome CDLS-1 Unknown - - - - - - - - - - - - - Bert Redeker



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000180682 DNA DHPLC - - NIPBL 1 Bert Redeker



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     
5 Unknown +/. - pathogenic g.36976284_36976287del g.36976182_36976185del 1275_1278delAACA - NIPBL_000196 - Redeker; PubMed: Oliveira 2010 - - Germline - - - 0 - Bert Redeker NIPBL - - - - - 9 NM_133433.3:c.1275_1278del - r.(?) p.(Thr426Hisfs*54) - - - - - - - - - - - - - - - - - - -
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