Genomic variant #0000052421

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_7340000)_(10400000_10450000)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID chr6_000408
Variant remarks 3.2 Mb deletion 6p24.3 (estimated from figure)
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

Stop! No variants on transcripts found!



Screenings


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Genes screened     

Variants found     

Owner     
0000029070 DNA arraySNP - - TFAP2A 2 Johan den Dunnen