Genomic variant #0000079337

Individual ID 00050412
Chromosome 10
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.75971593_78526861del
DNA change (hg38) g.74211835_76767103del
Published as -
ISCN -
DB-ID ADK_000001
Variant remarks decreased gene dosage
Reference PubMed: DDDS 2015, Journal: DDDS 2015
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     
DUPD1 NM_001003892.1 ./. - c.-1708589_*826001del - r.? p.?
DUSP13 NM_001007271.1 ./. - c.-1657946_*883746del - r.? p.?
ADK NM_001123.3 ./. - c.89+10997_*2058658del - r.? p.?
KAT6B NM_001256468.1 ./. - c.-615279_*1736057del - r.? p.?
KAT6B NM_001256469.1 ./. - c.-615279_*1736057del - r.? p.?
VDAC2 NM_003375.3 ./. - c.-999129_*1536114del - r.? p.?
ADK NM_006721.3 ./. - c.140+10997_*2058658del - r.? p.?
KAT6B NM_012330.3 ./. - c.-615279_*1736057del - r.? p.?
C10orf11 NM_032024.3 ./. - c.-1571141_*209815del - r.? p.?
ZNF503 NM_032772.4 ./. - c.-1365684_*1186914del - r.? p.?
COMTD1 NM_144589.2 ./. - c.-1531175_*1022238del - r.? p.?
SAMD8 NM_144660.2 ./. - c.-899959_*1590849del - r.? p.?
ZNF503-AS2 NR_024422.1 ./. - n.-1191921_*1358121del - r.0? p.0?
MIR606 NR_030337.1 ./. - n.-1340623_*1214550del - r.0? p.0?
ZNF503-AS1 NR_038223.1 ./. - n.-1084548_*1405425del - r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050357 DNA SEQ;SEQ-NG-I - - - 1 Johan den Dunnen