Screening #0000050466

Individual ID 00050521
Template DNA
Technique SEQ;SEQ-NG-I
Tissue -
Remarks -
Variants found? 2
Owner name Johan den Dunnen


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
TCF4 transcription factor 4 18 q21.1 1 227 151 2019-08-17 FECD-3, ID, PTHS



Variants found

2 entries on 1 page. Showing entries 1 - 2.
Legend  

Chr     

Allele     

Effect     

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     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

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     

Protein level     
16 Paternal (confirmed) +/. g.29989010_30038245dup g.29977689_30026924dup - - FAM57B_000003 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - Johan den Dunnen C16orf92, DOC2A, FAM57B, HIRIP3, INO80E, TAOK2 - - - - - - NM_001109659.1:c.-45652_*2697dup, NM_003586.2:c.-16035_*28497dup, NM_031478.4:c.210-81_*47494dup, NM_003609.4:c.-31319_*15518dup, NM_173618.1:c.-18622_*21482dup, NM_016151.3:c.-35-49_*38944dup - - - - - - - - - - - - - - - - - - - - - - -
18 Unknown +/. g.52895593C>T g.55228362C>T - - TCF4_000093 splice variant PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen TCF4 - - - - - 18i NM_001083962.1:c.1880-1G>A - - r.spl p.? - - - - - - - - - - - - - - - - - - -
Legend