Genomic variant #0000665687

Individual ID 00050103
Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification -
DNA change (genomic) (Relative to hg19 / GRCh37) g.[NC_000024.9:pter_4892526]delins[TTT;pter_77220642]
DNA change (hg38) -
Published as ROBO2-PCDH11Y fusion
ISCN 46,XY,t(Y;3)(p11;p12)dn
DB-ID chr3_000000 See all 2 reported entries
Variant remarks breakpoint in BAC RP11-54A6; fusion transcripts expressed at somewhat reduced levels compared to non-translocated chromosome
Reference -
ClinVar ID -
dbSNP ID -
Origin DUPLICATE record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Genomic location of variant could not be determined
Owner Johan den Dunnen




Variant on transcripts

Stop! No variants on transcripts found!



Screenings


AscendingScreening ID     

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Technique     

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Genes screened     

Variants found     

Owner     
0000050045 DNA;RNA FISH;PCR;RT-PCR;SEQ - - PCDH11Y, ROBO2 5 Johan den Dunnen