Variant #0000079672 (NC_000018.9:g.48362664_78015180del, MC4R(NM_005912.2):c.-19975598_*9675920del)

Individual ID 00050538
Chromosome 18
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.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 (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

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? - - -
FECH NM_001012515.2 +/. - c.-22761328_*6855280del - 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? - - -
NEDD4L NM_001144967.2 +/. - c.-7349229_*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? - - -
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? - - -
TNFRSF11A NM_003839.3 +/. - c.-11629922_*17962913del - 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