Screening #0000029066

Individual ID 00029025
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 1
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 18 16 2016-05-03 BOFS, ID



Variants found

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

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     

Effect     

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     

Protein/Legacy     

CodonNr     

Method     

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/Stain     

Protein level     
6 Parent #1 g.10404742T>C g.10404509T>C 10529A>G - TFAP2A_000002 - PubMed: Milunsky 2008, OMIM:var0001 - rs121909574 De novo yes - - 0 - Johan den Dunnen TFAP2A +/. - - - - - 4 NM_003220.2:c.763A>G - - r.(?) p.(Arg255Gly) - - - - - - - - - - - - - - - - - - - - - - -
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