Genomic variant #0000052418

Individual ID 00029026
Chromosome 6
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.10404759A>G
DNA change (hg38) g.10404526A>G
Published as 10512T>C
ISCN -
DB-ID TFAP2A_000004
Variant remarks -
Reference PubMed: Milunsky 2008
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
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 +/. 4 c.746T>C - r.(?) p.(Leu249Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000029067 DNA SEQ - - TFAP2A 1 Johan den Dunnen