Screening #0000029070

Individual ID 00029029
Template DNA
Technique arraySNP
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
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) 6 pter-p22.3 1 29 26 2016-05-03 BOFS, ID



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     
6 Maternal (confirmed) +/. g.(7300000_7340000)_(10400000_10450000)del - - - chr6_000408 3.2 Mb deletion 6p24.3 (estimated from figure) PubMed: Milunsky 2008 - - Germline yes - - 0 - Johan den Dunnen - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
6 Maternal (confirmed) +/. g.(7300000_10398649)_(10415219_10450000)del - - - TFAP2A_000000 - PubMed: Milunsky 2008 - - Germline yes - - 0 - Johan den Dunnen TFAP2A - - - - - _1_7_ NM_003220.2:c.(?_-1)_(*1_?)del - - r.0 p.0 - - - - - - - - - - - - - - - - - - -
Legend