Individual #00179882

ID_report P1
Reference PubMed: Teresa-Rodrigo 2014
Remarks -
Gender M
Consanguinity -
Country -
Population -
Age at death >2y (later than 2 years)
VIP -
Data_av -
Treatment -
Panel size 1
Diseases CDLS
Owner name Cristina Dias
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Jorge Oliveira
Date created 2017-05-27 17:52:19 +02:00 (CEST)
Date last edited 2017-06-01 10:26:21 +02:00 (CEST)


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     

Protein     

Owner     
0000142336 2-year-old boy with pre and postnatal growth retardation, developmental delay, typical facial features, heart valve stenosis and a feeding disorder.; facial anomalies; congenital heart defects; intra uterine growth retardation; post natal growth retardation; Cornelia de Lange syndrome CDLS-1 Unknown - - - - - Cristina Dias



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000180785 RNA;DNA RT-PCR - - NIPBL 1 Cristina Dias



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     

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/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
5 Unknown +?/. - likely pathogenic g.36958334G>A g.36958232G>A - - NIPBL_000290 - PubMed: Teresa-Rodrigo 2014 - - Germline - - - - - Cristina Dias NIPBL - - - - 4i NM_133433.3:c.358+1G>A - r.231_358del p.(Ile77Metfs*5) - - - - - - - - - - - - - -
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