Genomic variant #0000079672

Individual ID 00050538
Chromosome 18
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.48362664_78015180del
DNA change (hg38) -
Published as -
ISCN -
DB-ID ATP8B1_000025 See all 2 reported entries
Variant remarks mosaicism, hemizygous in 0.46 cells
Reference PubMed: DDDS 2015, Journal: DDDS 2015
ClinVar ID -
dbSNP ID -
Origin Somatic
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)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Predict/PolyPhen     

Predict/SIFT     
FECH NM_000140.3 ./. - c.-22761328_*6855280del - - r.0? p.0? - - -
BCL2 NM_000633.2 ./. - c.-17029060_*12433194del - - r.0? p.0? - - -
MBP NM_001025081.1 ./. - c.-3286216_*26329719del - - r.0? p.0? - - -
SERPINB8 NM_001031848.1 ./. - c.-13274751_*16361680del - - r.0? p.0? - - -
FAM69C NM_001044369.2 ./. - c.-5890686_*23741072del - - r.0? p.0? - - -
TCF4 NM_001083962.1 ./. _1_20_ c.-24759932_*4532602del - - r.0? p.0? - - -
HMSD NM_001123366.1 ./. - c.-13254073_*16387591del - - r.0? p.0? - - -
HSBP1L1 NM_001136180.1 ./. - c.-29362072_*284729del - - r.0? p.0? - - -
NEDD4L NM_001144964.1 ./. - c.-7352394_*21951679del - - r.0? p.0? - - -
C18orf63 NM_001174123.1 ./. - c.-23620713_*5991498del - - r.0? p.0? - - -
BOD1L2 NM_001257964.1 ./. - c.-6451880_*23200118del - - r.0? p.0? - - -
TNFRSF11A NM_001270949.1 ./. - c.-11629922_*17963188del - - r.0? p.0? - - -
GTSCR1 NM_001278515.1 ./. - c.-9697233_*19935132del - - r.0? p.0? - - -
GALR1 NM_001480.3 ./. - c.-26599841_*3034322del - - r.0? p.0? - - -
CYB5A NM_001914.3 ./. - c.-6056070_*23558287del - - r.0? p.0? - - -
KDSR NM_002035.2 ./. - c.-16980829_*12636351del - - r.0? p.0? - - -
GRP NM_002091.3 ./. - c.-8524834_*21117480del - - r.0? p.0? - - -
ME2 NM_002396.4 ./. - c.-43027_*29541626del - - r.0? p.0? - - -
SERPINB2 NM_002575.2 ./. - c.-13192350_*16444641del - - r.0? p.0? - - -
SERPINB5 NM_002639.4 ./. - c.-12781622_*16844225del - - r.0? p.0? - - -
SERPINB4 NM_002974.2 ./. - c.-16703764_*12942289del - - r.0? p.0? - - -
SERPINB7 NM_003784.3 ./. - c.-13080305_*16543311del - - r.0? p.0? - - -
MBD2 NM_003927.4 ./. - c.-26264251_*3319030del - - r.0? p.0? - - -
RAB27B NM_004163.4 ./. - c.-4133287_*25458536del - - r.0? p.0? - - -
SOCS6 NM_004232.3 ./. - c.-19593789_*10021668del - - r.0? p.0? - - -
NARS NM_004539.3 ./. - c.-22726231_*6906220del - - r.0? p.0? - - -
CTDP1 NM_004715.4 ./. - c.-29077284_*501390del - - r.0? p.0? - - -
TXNL1 NM_004786.2 ./. - c.-23709509_*5907594del - - r.0? p.0? - - -
ONECUT2 NM_004852.2 ./. - c.-6740285_*22871225del - - r.0? p.0? - - -
VPS4B NM_004869.3 ./. - c.-16925688_*12695544del - - r.0? p.0? - - -
SERPINB10 NM_005024.1 ./. - c.-13220081_*16412704del - - r.0? p.0? - - -
DCC NM_005215.3 ./. - c.-1504494_*26958157del - - r.0? p.0? - - -
SMAD4 NM_005359.5 ./. - c.-194457_*29410343del - - r.0? p.0? - - -
LMAN1 NM_005570.3 ./. - c.-20988704_*8635661del - - r.0? p.0? - - -
ATP8B1 NM_005603.4 ./. - c.-22544973_*6953056del - - r.0? p.0? - - -
TSHZ1 NM_005786.5 ./. - c.-24560630_*5014584del - - r.0? p.0? - - -
MC4R NM_005912.2 ./. - c.-19975598_*9675920del - - r.0? p.0? - - -
NFATC1 NM_006162.3 ./. - c.-28793561_*727650del - - r.0? p.0? - - -
CD226 NM_006566.2 ./. - c.-10391217_*19168886del - - r.0? p.0? - - -
TXNL4A NM_006701.2 ./. - c.-266788_*29371021del - - r.0? p.0? - - -
MALT1 NM_006785.2 ./. - c.-7976212_*21600106del - - r.0? p.0? - - -
SERPINB3 NM_006919.2 ./. - c.-16686127_*12960227del - - r.0? p.0? - - -
POLI NM_007195.2 ./. - c.-3433253_*26194343del - - r.0? p.0? - - -
ZNF236 NM_007345.3 ./. - c.-26173650_*3334885del - - r.0? p.0? - - -
KCNG2 NM_012283.1 ./. - c.-29261004_*355364del - - r.0? p.0? - - -
SERPINB13 NM_012397.3 ./. - c.-12892038_*16750583del - - r.0? p.0? - - -
RAX NM_013435.2 ./. - c.-21074742_*8573572del - - r.0? p.0? - - -
TIMM21 NM_014177.2 ./. - c.-23453380_*6189465del - - r.0? p.0? - - -
ZNF516 NM_014643.3 ./. - c.-3808352_*25711789del - - r.0? p.0? - - -
ADNP2 NM_014913.3 ./. - c.-29504706_*118488del - - r.0? p.0? - - -
WDR7 NM_015285.2 ./. - c.-5956163_*23320742del - - r.0? p.0? - - -
ST8SIA3 NM_015879.2 ./. - c.-6657414_*22987672del - - r.0? p.0? - - -
MEX3C NM_016626.4 ./. - c.-29291490_*340057del - - r.0? p.0? - - -
ZCCHC2 NM_017742.4 ./. - c.-11827994_*17771368del - - r.0? p.0? - - -
ZNF407 NM_017757.2 ./. - c.-23980312_*5238756del - - r.0? p.0? - - -
ZNF532 NM_018181.4 ./. - c.-8167944_*21363482del - - r.0? p.0? - - -
CNDP2 NM_018235.2 ./. - c.-23801095_*5827877del - - r.0? p.0? - - -
ELAC1 NM_018696.2 ./. - c.-131829_*29501725del - - r.0? p.0? - - -
TMX3 NM_019022.3 ./. - c.-11632962_*17981506del - - r.0? p.0? - - -
KIAA1468 NM_020854.3 ./. - c.-11492075_*18042413del - - r.0? p.0? - - -
PMAIP1 NM_021127.2 ./. - c.-9204746_*20445195del - - r.0? p.0? - - -
CDH19 NM_021153.3 ./. - c.-13744102_*15809385del - - r.0? p.0? - - -
CCDC102B NM_024781.2 ./. - c.-18102770_*11293806del - - r.0? p.0? - - -
RBFA NM_024805.2 ./. - c.-29431832_*209025del - - r.0? p.0? - - -
PQLC1 NM_025078.4 ./. - c.-303699_*29301312del - - r.0? p.0? - - -
CCDC68 NM_025214.2 ./. - c.-25388716_*4208925del - - r.0? p.0? - - -
CDH20 NM_031891.2 ./. - c.-10795123_*18793252del - - r.0? p.0? - - -
DSEL NM_032160.2 ./. - c.-12832437_*16815543del - - r.0? p.0? - - -
PARD6G NM_032510.3 ./. - c.-9949_*29554990del - - r.0? p.0? - - -
CNDP1 NM_032649.5 ./. - c.-23839239_*5763382del - - r.0? p.0? - - -
SEC11C NM_033280.2 ./. - c.-8444517_*21189263del - - r.0? p.0? - - -
CDH7 NM_033646.1 ./. - c.-15055149_*14467050del - - r.0? p.0? - - -
ALPK2 NM_052947.3 ./. - c.-21719205_*7786391del - - r.0? p.0? - - -
SERPINB12 NM_080474.1 ./. - c.-12860729_*16780936del - - r.0? p.0? - - -
SERPINB11 NM_080475.2 ./. - c.-13007592_*16624547del - - r.0? p.0? - - -
CCBE1 NM_133459.3 ./. - c.-20650606_*8740476del - - r.0? p.0? - - -
NETO1 NM_138999.1 ./. - c.-7482348_*22139886del - - r.0? p.0? - - -
STARD6 NM_139171.1 ./. - c.-26134237_*3488398del - - r.0? p.0? - - -
FBXO15 NM_152676.2 ./. - c.-6200517_*23378032del - - r.0? p.0? - - -
DOK6 NM_152721.5 ./. - c.-18705817_*10506561del - - r.0? p.0? - - -
SALL3 NM_171999.3 ./. - c.-28377611_*1257858del - - r.0? p.0? - - -
C18orf54 NM_173529.4 ./. - c.-3522623_*26110564del - - r.0? p.0? - - -
RNF152 NM_173557.2 ./. - c.-18455288_*11120421del - - r.0? p.0? - - -
DYNAP NM_173629.1 ./. - c.-3895772_*25749804del - - r.0? p.0? - - -
RTTN NM_173630.3 ./. - c.-10142286_*19308723del - - r.0? p.0? - - -
ZADH2 NM_175907.4 ./. - c.-5094167_*24550707del - - r.0? p.0? - - -
PIGN NM_176787.4 ./. - c.-18161339_*11350425del - - r.0? p.0? - - -
CPLX4 NM_181654.3 ./. - c.-21029486_*8601266del - - r.0? p.0? - - -
CBLN2 NM_182511.3 ./. - c.-7804180_*21842747del - - r.0? p.0? - - -
PHLPP1 NM_194449.3 ./. - c.-12020253_*17368516del - - r.0? p.0? - - -
ATP9B NM_198531.3 ./. - c.-28466747_*877797del - - r.0? p.0? - - -
SNORA37 NR_002970.1 ./. - n.-26266398_*3385990del - - r.0? p.0? - - -
OACYLP NR_024021.1 ./. - n.-8340307_*21294734del - - r.0? p.0? - - -
LINC00909 NR_024484.1 ./. - n.-5750109_*23896346del - - r.0? p.0? - - -
LINC00305 NR_027245.1 ./. - n.-16198920_*13384579del - - r.0? p.0? - - -
PARD6G-AS1 NR_028339.1 ./. - n.-29543143_*85564del - - - - - - -
MIR122 NR_029667.1 ./. - n.-7755642_*21896790del - - r.0? p.0? - - -
MIR4529 NR_039754.1 ./. - n.-4783788_*24868651del - - r.0? p.0? - - -
MIR3591 NR_039899.1 ./. - n.-21896796_*7755648del - - r.0? p.0? - - -
LINC-ROR NR_048536.1 ./. - n.-23275830_*6359138del - - r.0? p.0? - - -
MIR5011 NR_049809.1 ./. - n.-16386157_*13266257del - - r.0? p.0? - - -
MIR548AV NR_049858.1 ./. - n.-7494563_*22157892del - - r.0? p.0? - - -
RBFADN NR_103445.1 ./. - n.-29464592_*175974del - - r.0? p.0? - - -
LINC00683 XR_159016.1 ./. - n.-25964505_*3677283del - - r.0? p.0? - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050483 DNA SEQ;SEQ-NG-I - - - 3 Johan den Dunnen