Individual #00314919

ID_report Fam2PatIII5
Reference PubMed: Cacciagli 2013
Remarks 4-generation family, 4 affected (4M), 3 unaffected carrier females
Gender M
Consanguinity -
Country France
Population -
Age at death 7m
VIP 0
Data_av -
Treatment -
Panel size 4
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     
0000238677 - DDCH severe intellectual disability; onset congenital; no motor milestones; no cognitive problems Familial, X-linked recessive - - - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000316093 DNA SEQ - - BCAP31 1 Johan den Dunnen



Variants

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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 Maternal (confirmed) +/. - pathogenic (recessive) g.152961800_152967144del g.153696345_153701689del del ex8 - BCAP31_000041 SLC6A8 transcript level 0.46 PubMed: Cacciagli 2013 - - Germline - - - 0 - Johan den Dunnen BCAP31, SLC6A8 - - - - - 7i_8_, NM_001139457.2:c.903+318_*445{0}, NM_001256447.1:c.702+318_*445{0}, NM_005629.3:c.*1131_*1379{0} - r.?, r.(?) p.?, p.(=) - - - - - - - - - - - - - - - - - - -
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