Genomic variant #0000079439

Individual ID 00050514
Chromosome 22
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.18839287_21830562dup
DNA change (hg38) -
Published as -
ISCN -
DB-ID ARVCF_000005
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     
SERPIND1 NM_000185.3 ./. - c.-2289163_*689208dup - r.? p.?
GP1BB NM_000407.4 +/. - c.-871806_*2118575dup pathogenic (recessive) r.? p.?
COMT NM_000754.3 ./. - c.-1090225_*1874303dup - r.? p.?
UFD1L NM_001035247.2 ./. - c.-2363954_*598976dup - r.? p.?
RIMBP3B NM_001128635.1 ./. - c.-2898861_*87495dup - r.? p.?
DGCR8 NM_001190326.1 ./. - c.-1228897_*1732931dup - r.? p.?
TMEM191C NM_001207052.1 ./. - c.-2982321_*6452dup - r.0? p.0?
TMEM191B NM_001242313.1 ./. - c.-1538561_*1450236dup - r.? p.?
ARVCF NM_001670.2 ./. - c.-1826523_*1118992dup - r.? p.?
SEPT5 NM_002688.5 ./. - c.-862825_*2120555dup - r.? p.?
RANBP1 NM_002882.2 ./. - c.-1265886_*1715987dup - r.? p.?
CLDN5 NM_003277.3 ./. - c.-2317917_*671835dup - r.? p.?
HIRA NM_003325.3 ./. - c.-2411563_*479676dup - r.? p.?
ZNF74 NM_003426.3 ./. - c.-1909632_*1069304dup - r.? p.?
CDC45 NM_003504.3 ./. - c.-628205_*2322560dup - r.? p.?
MRPL40 NM_003776.2 ./. - c.-580791_*2407077dup - r.? p.?
SLC7A4 NM_004173.2 ./. - c.-443783_*2544057dup - r.? p.?
SNAP29 NM_004782.3 ./. - c.-2374112_*588438dup - r.? p.?
DGCR2 NM_005137.2 ./. - c.-2720843_*187091dup - r.? p.?
CRKL NM_005207.3 ./. - c.-2432936_*526429dup - r.? p.?
GSC2 NM_005315.1 ./. - c.-2692766_*297217dup - r.? p.?
P2RX6 NM_005446.3 ./. - c.-2530177_*449656dup - r.? p.?
DGCR6 NM_005675.4 ./. - c.-54601_*2931360dup - r.? p.?
SLC25A1 NM_005984.3 ./. - c.-2664376_*324356dup - r.? p.?
TXNRD2 NM_006440.3 ./. - c.-1901236_*1024109dup - r.? p.?
LZTR1 NM_006767.3 ./. _1_21_ c.-2497374_*478925dup - r.? p.?
CLTCL1 NM_007098.3 ./. - c.-2551398_*328216dup - r.? p.?
ZDHHC8 NM_013373.3 ./. - c.-1280184_*1697639dup - r.? p.?
HIC2 NM_015094.2 ./. - c.-2932636_*29530dup - r.? p.?
RIMBP3 NM_015672.1 ./. - c.-1369261_*1617095dup - r.? p.?
MED15 NM_015889.3 ./. - c.-2022679_*889571dup - r.? p.?
PRODH NM_016335.4 ./. - c.-2906700_*61401dup - r.? p.?
DGCR14 NM_022719.2 ./. - c.-2698409_*282422dup - r.? p.?
TRMT2A NM_022727.5 ./. - c.-1726133_*1260799dup - r.? p.?
RTN4R NM_023004.5 ./. - c.-1574947_*1389947dup - r.? p.?
C22orf29 NM_024627.5 ./. - c.-1988702_*999403dup - r.? p.?
THAP7 NM_030573.2 ./. - c.-474362_*2514882dup - r.? p.?
KLHL22 NM_032775.3 ./. - c.-980549_*1957073dup - r.? p.?
DGCR6L NM_033257.3 ./. - c.-1523051_*1462911dup - r.? p.?
GNB1L NM_053004.2 ./. - c.-1988337_*936945dup - r.? p.?
TSSK2 NM_053006.4 ./. - c.-279626_*2710573dup - r.? p.?
PI4KA NM_058004.3 ./. - c.-617549_*2223048dup - r.? p.?
TBX1 NM_080647.1 ./. - c.-905068_*2076172dup - r.? p.?
AIFM3 NM_144704.2 ./. - c.-2480349_*495242dup - r.? p.?
TANGO2 NM_152906.4 ./. - c.-1169522_*1778377dup - r.? p.?
SCARF2 NM_153334.4 ./. - c.-1038521_*1940378dup - r.? p.?
C22orf39 NM_173793.4 ./. - c.-2395240_*592501dup - r.? p.?
DGCR5 NR_002733.2 ./. - n.-118724_*2848420dup - r.0? p.0?
P2RX6P NR_002829.1 ./. - n.-432024_*2557394dup - r.0? p.0?
PI4KAP1 NR_003563.1 ./. - n.-1431867_*1544444dup - r.0? p.0?
TUBA3FP NR_003608.1 ./. - n.-461986_*2523205dup - r.0? p.0?
PI4KAP2 NR_003700.1 ./. - n.1622-113_*2988000dup - - -
DGCR11 NR_024157.1 ./. - n.-2794674_*194388dup - r.0? p.0?
LINC00895 NR_024381.1 ./. - n.-2276200_*714366dup - r.0? p.0?
POM121L8P NR_024583.1 ./. - n.-2797427_*178543dup - r.0? p.0?
POM121L4P NR_024592.1 ./. - n.-2204556_*784553dup - r.0? p.0?
DGCR10 NR_026651.1 ./. - n.-170850_*2819499dup - r.0? p.0?
TMEM191A NR_026815.1 ./. - n.-2216115_*771671dup - r.0? p.0?
LINC00896 NR_026919.1 ./. - n.-1354568_*1634502dup - r.0? p.0?
THAP7-AS1 NR_027051.1 ./. - n.-2516924_*465899dup - r.0? p.0?
MIR185 NR_029706.1 ./. - n.-1181375_*1809819dup - r.0? p.0?
MIR649 NR_030379.1 ./. - n.-442001_*2549178dup - r.0? p.0?
MIR1286 NR_031618.1 ./. - n.-1593828_*1397370dup - r.0? p.0?
MIR1306 NR_031706.1 ./. - n.-1234294_*1756897dup - r.0? p.0?
MIR3618 NR_037412.1 ./. - n.-1233982_*1757206dup - r.0? p.0?
BCRP2 NR_037566.1 ./. - n.-2618018_*353987dup - r.0? p.0?
MIR4761 NR_039918.1 ./. - n.-1111989_*1879205dup - r.0? p.0?
GGT2 XM_001129377.4 ./. - c.-250176_*2723140dup - - -
CA15P3 XM_003846306.1 ./. - c.-2868718_*115791dup - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050459 DNA SEQ;SEQ-NG-I - - - 1 Johan den Dunnen