Genomic variant #0000079471

Individual ID 00050546
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.14805381_16561151dup
DNA change (hg38) g.14711524_16467294dup
Published as -
ISCN -
DB-ID MYH11_000002
Variant remarks increased 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     
NOMO3 NM_001004067.3 ./. - c.-1521143_*172995dup - r.? p.?
MYH11 NM_001040113.1 ./. - c.-610371_*992608dup - r.? p.?
ABCC6 NM_001171.5 ./. - c.-243860_*1438609dup - r.? p.?
NPIPA3 NM_001277323.1 ./. - c.-165_*1741001dup - - -
NPIPA2 NM_001277324.1 ./. - c.-39289_*1701881dup - - -
NPIPA5 NM_001277325.1 ./. - c.-1089000_*652135dup - - -
ABCC1 NM_004996.3 ./. - c.-1238228_*326013dup - r.? p.?
NOMO1 NM_014287.3 ./. - c.-122328_*1571649dup - r.? p.?
KIAA0430 NM_014647.3 ./. - c.-824335_*885169dup - r.? p.?
PDXDC1 NM_015027.2 ./. - c.-263676_*1431019dup - r.? p.?
NDE1 NM_017668.2 ./. - c.-938814_*743043dup - r.? p.?
RRN3 NM_018427.3 ./. - c.-1373061_*350220dup - r.? p.?
C16orf45 NM_033201.2 ./. - c.-723130_*880465dup - r.? p.?
FOPNL NM_144600.2 ./. - c.-578709_*1155916dup - r.? p.?
NTAN1 NM_173474.3 ./. - c.-1411323_*326507dup - r.? p.?
MPV17L NM_173803.3 ./. - c.-684374_*1059258dup - r.? p.?
ABCC6P2 NR_023387.1 ./. - n.-1642592_*110908dup - r.0? p.0?
MIR484 NR_030159.1 ./. - n.-931770_*823922dup - r.0? p.0?
MIR3179-1 NR_036140.1 ./. - n.-189984_*1565703dup - r.0? p.0?
MIR3180-1 NR_036141.1 ./. - n.-199696_*1555981dup - r.0? p.0?
MIR3180-2 NR_036142.1 ./. - n.-1598355_*157328dup - r.0? p.0?
MIR3179-2 NR_036143.1 ./. - n.-1588635_*167052dup - r.0? p.0?
PKD1P1 NR_036447.1 ./. - n.-1606085_*116686dup - r.0? p.0?
MIR3670-1 NR_037442.1 ./. - n.-196193_*1559513dup - r.0? p.0?
MIR3180-4 NR_037466.1 ./. - n.-1312292_*443326dup - r.0? p.0?
MIR3670-2 NR_049832.1 ./. - n.-1594846_*160860dup - r.0? p.0?
NPIPA7 XM_005255737.1 ./. - c.-1667721_*74645dup - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050491 DNA SEQ;SEQ-NG-I - - EP300 2 Johan den Dunnen