Genomic variant #0000052422

Individual ID 00029029
Chromosome 6
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.(7300000_10398649)_(10415219_10450000)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID TFAP2A_000000
Variant remarks -
Reference PubMed: Milunsky 2008
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
TFAP2A NM_003220.2 +/. _1_7_ c.(?_-1)_(*1_?)del - r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000029070 DNA arraySNP - - TFAP2A 2 Johan den Dunnen