Individual #00102083

ID_report P12
Reference -
Remarks -
Gender M
Consanguinity no
Country China
Population -
Age at death >14y (later than 14 years)
VIP -
Data_av -
Treatment -
Panel size 1
Diseases ID
Owner name Wenjuan Qiu
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Wenjuan Qiu


Phenotypes

intellectual disability (ID) (ID)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Phenotype details     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000080269 - - Isolated (sporadic) HP:0001999; HP:0001182; HP:0006101; HP:0002650; intellectual disability (HP:0001249) - - - - - Wenjuan Qiu



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000102534 DNA SEQ-NG-I blood - NIPBL 1 Wenjuan Qiu



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.36971139G>C g.36971037G>C - - NIPBL_000302 - - - - De novo yes - - 0 - Wenjuan Qiu NIPBL - - - - - 7i NM_133433.3:c.771+1G>C - r.(751_771del) p.(Val251_Asp257del) - - - - - - - 0.000 - - - - - - - - - - -
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