Genomic variant #0000079013

Individual ID 00050103
Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.pter_77220642delins[NC_000024.9:pter_4892525]
DNA change (hg38) -
Published as ROBO2-PCDH11Y fusion
ISCN 46,XY,t(Y;3)(p11;p12)dn
DB-ID ROBO2_000006
Variant remarks breakpoint in BAC RP11-54A6; fusion transcripts expressed at somewhat reduced levels compared to non-translocated chromosome
Reference PubMed: Lu 2007, Journal: Lu 2007
ClinVar ID -
dbSNP ID -
Origin De novo
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


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ROBO2 NM_001128929.2 +/. 3i c.436+73151_436+73152::? r.-280_436::NM_032971.2:r.[33_*1237,-271_*1237] p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

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