Screening #0000156169

Individual ID 00155305
Template DNA
Technique PCRrp
Tissue -
Remarks -
Variants found? 3
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

3 entries on 1 page. Showing entries 1 - 3.
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     
18 Parent #1 +/. g.53253330_5325347[ins(51_?)] - expanded >40 units - TCF4_000150 incomplete penetrance PubMed: Mootha 2014 - - Germline yes - - 0 - Johan den Dunnen TCF4 - - - - - 2i NM_001083962.1:c.72+804_73-747[ins(51_?)] GCT[>40] pathogenic (risk) r.(?) p.(?) - - - - - - - - - - - - - - - - - - -
18 Parent #2 -/. g.53253385_53253459AGC[12] - - - TCF4_000154 - PubMed: Mootha 2014 - - Germline no - - 0 - Johan den Dunnen TCF4 - - - - - 2i NM_001083962.1:c.72+817_73-802GCT[12] - benign r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
18 Parent #1 -/. g.53210302= g.55543071= rs613872 G - TCF4_000151 - PubMed: Mootha 2014 - rs613872 Germline - - - 0 - Johan den Dunnen TCF4 - - - - - 3i NM_001083962.1:c.145+42209= - benign r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
Legend