Individual #00332412

ID_report -
Reference -
Remarks -
Gender F
Consanguinity -
Country Belgium
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases CRDHL
Owner name Elfride De Baere
Database submission license No license selected
Created by Elfride De Baere
Date created 2021-02-18 17:59:12 +01:00 (CET)
Date last edited 2021-02-19 08:18:23 +01:00 (CET)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000333636 DNA SEQ-ON - - CEP78 2 Elfride De Baere



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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     
9 Paternal (confirmed) +/. - pathogenic (recessive) g.[80843699_80849462del;80849463_80849760inv;80849761_80859678del] - del ex1-5 - CEP78_000030 - - - - Germline - - - - - Elfride De Baere CEP78 - - - - _1_5i NM_001098802.1:c.-256_778+1129{0} - r.0? p.0? - - - - - - - - - - - - - -
9 Maternal (confirmed) +?/. - likely pathogenic (recessive) g.80877888dup g.78262972dup g.78262972dup, c.1449dup, p.(Arg484Thrfs*4) - CEP78_000033 c.1449dup detected via WES-NGS and combined with exon 1-5 deletion of paternal origin (PMID:30526634) confirmed with Oxford Nanopore - - - Germline - - - - - Elfride De Baere CEP78 - - - - - NM_001098802.1:c.1449dup - r.(?) p.(Arg484Thrfs*4) - - - - - - - - - - - - - -
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