Genomic variant #0000079383

Individual ID 00050458
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification -
DNA change (genomic) (Relative to hg19 / GRCh37) g.21530207_29332245del
DNA change (hg38) g.21518886_29320924del
Published as -
ISCN -
DB-ID CLN3_000009
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
SCNN1B NM_000336.2 ./. - c.-1783560_*5940123del - r.0? p.0?
ZKSCAN2 NM_001012981.4 ./. - c.-4063797_*3720930del - r.0? p.0?
LAT NM_001014987.1 ./. - c.-7466532_*330743del - r.0? p.0?
SBK1 NM_001024401.2 ./. - c.-6774422_*1000003del - r.0? p.0?
LCMT1 NM_001032391.1 ./. - c.-3592998_*4142901del - r.0? p.0?
SCNN1G NM_001039.3 ./. - c.-1663972_*6105455del - r.0? p.0?
CLN3 NM_001042432.1 ./. - c.-828981_*6958630del - r.0? p.0?
SULT1A2 NM_001054.3 ./. - c.-723932_*7073142del - r.0? p.0?
EARS2 NM_001083614.1 ./. - c.-5763581_*2005485del - r.0? p.0?
EIF3CL NM_001099661.1 ./. - c.-917172_*6860912del - r.0? p.0?
NPIPB5 NM_001135865.1 ./. - c.-994916_*6784539del - r.0? p.0?
C16orf82 NM_001145545.1 ./. - c.-5548110_*2253464del - r.0? p.0?
C16orf52 NM_001164579.1 ./. - c.-489416_*7240044del - r.0? p.0?
AQP8 NM_001169.2 ./. - c.-3698160_*4092432del - r.0? p.0?
CD19 NM_001178098.1 ./. - c.-7413115_*381799del - r.0? p.0?
IL4R NM_001257997.1 ./. - c.-5795628_*1957094del - r.0? p.0?
XPO6 NM_001270940.1 ./. - c.-1109734_*6579652del - r.0? p.0?
GTF3C1 NM_001520.3 ./. - c.-1771034_*5942464del - r.0? p.0?
CDR2 NM_001802.1 ./. - c.-6946615_*828079del - r.0? p.0?
TUFM NM_003321.4 ./. - c.-474655_*7324089del - r.0? p.0?
UQCRC2 NM_003366.2 ./. - c.-434538_*7337753del - r.0? p.0?
EIF3C NM_003752.3 ./. - c.-7192663_*585411del - r.0? p.0?
ATP2A1 NM_004320.4 ./. - c.-7359786_*416782del - r.0? p.0?
NDUFAB1 NM_005003.2 ./. - c.-5724634_*2062296del - r.0? p.0?
PLK1 NM_005030.3 ./. - c.-2160047_*5630861del - r.0? p.0?
IGSF6 NM_005849.3 ./. - c.-7668326_*122648del - r.0? p.0?
HS3ST4 NM_006040.2 ./. - c.-4173532_*3184676del - r.0? p.0?
HS3ST2 NM_006043.1 ./. - c.-1295725_*6405362del - r.0? p.0?
CACNG3 NM_006539.3 ./. - c.-2737869_*4959061del - r.0? p.0?
RBBP6 NM_006910.4 ./. - c.-3021741_*4748479del - r.0? p.0?
ATXN2L NM_007245.3 ./. - c.-7304374_*484659del - r.0? p.0?
NUPR1 NM_012385.2 ./. - c.-782017_*7018797del - r.0? p.0?
EEF2K NM_013302.3 ./. - c.-687870_*7036928del - r.0? p.0?
TNRC6A NM_014494.2 ./. - c.-3210956_*4497117del - r.0? p.0?
GGA2 NM_015044.4 ./. - c.-5810513_*1948704del - r.0? p.0?
KIAA0556 NM_015202.2 ./. - c.-6031285_*1542295del - r.0? p.0?
SH2B1 NM_015503.2 ./. - c.-7347209_*447459del - r.0? p.0?
METTL9 NM_016025.3 ./. - c.-80848_*7665492del - r.0? p.0?
ARHGAP17 NM_018054.4 ./. - c.-4305663_*3401244del - r.0? p.0?
POLR3E NM_018119.3 ./. - c.-778690_*6987224del - r.0? p.0?
APOBR NM_018690.3 ./. - c.-6975796_*822419del - r.0? p.0?
UBFD1 NM_019116.2 ./. - c.-2038857_*5750334del - r.0? p.0?
USP31 NM_020718.3 ./. - c.-6171654_*1549160del - r.0? p.0?
CHP2 NM_022097.2 ./. - c.-2236164_*5563341del - r.0? p.0?
PALB2 NM_024675.3 ./. - c.-5679767_*2084573del - r.0? p.0?
KDM8 NM_024773.2 ./. - c.-5684782_*2100194del - r.0? p.0?
RABEP2 NM_024816.2 ./. - c.-395761_*7386057del - r.0? p.0?
SPNS1 NM_032038.2 ./. - c.-7456266_*336625del - r.0? p.0?
DCTN5 NM_032486.3 ./. - c.-2122657_*5653780del - r.0? p.0?
NFATC2IP NM_032815.3 ./. - c.-7432126_*357061del - r.0? p.0?
ERN2 NM_033266.3 ./. - c.-5607593_*2171945del - r.0? p.0?
SLC5A11 NM_052944.3 ./. - c.-3327577_*4409391del - r.0? p.0?
CCDC101 NM_138414.2 ./. - c.-7035227_*729218del - r.0? p.0?
OTOA NM_144672.3 ./. - c.-159629_*7560384del - r.0? p.0?
GSG1L NM_144675.2 ./. - c.-1432933_*6272484del - r.0? p.0?
NSMCE1 NM_145080.3 ./. - c.-2052230_*5706271del - r.0? p.0?
IL27 NM_145659.3 ./. - c.-814113_*6980765del - r.0? p.0?
COG7 NM_153603.3 ./. - c.-5867930_*1870034del - r.0? p.0?
VWA3A NM_173615.3 ./. - c.-573752_*7164907del - r.0? p.0?
PDZD9 NM_173806.3 ./. - c.-7319877_*465381del - r.0? p.0?
SULT1A1 NM_177530.2 ./. - c.-711870_*7086935del - r.0? p.0?
IL21R NM_181078.2 ./. - c.-5883749_*1871641del - r.0? p.0?
PRKCB NM_212535.2 ./. - c.-2317290_*5100811del - r.0? p.0?
SLC7A5P2 NR_002594.1 ./. - n.-7800480_1559del - - -
SNX29P2 NR_002939.3 ./. - n.-7783401_343-4del - - -
RRN3P2 NR_003369.2 ./. - n.-7555956_*204206del - r.0? p.0?
RRN3P1 NR_003370.2 ./. - n.-7501750_*277744del - r.0? p.0?
SMG1P1 NR_027154.1 ./. - n.-918122_*6828704del - r.0? p.0?
RRN3P3 NR_027460.1 ./. - n.-6883209_*900660del - r.0? p.0?
MIR548W NR_036146.1 ./. - n.-4506351_*3295614del - r.0? p.0?
IL21R-AS1 NR_037158.1 ./. - n.-1867531_*5928783del - r.0? p.0?
MIR4517 NR_039742.1 ./. - n.-7439697_*362263del - r.0? p.0?
MIR4721 NR_039872.1 ./. - n.-476917_*7325033del - r.0? p.0?
NPIPB8 XM_001132754.7 ./. - c.-7125704_*662294del - r.0? p.0?
NPIPB6 XM_003118718.2 ./. - c.-957940_*6823721del - r.0? p.0?
NPIPB9 XM_003118719.4 ./. - c.-7233425_*548169del - r.0? p.0?
NPIPB4 XM_003403461.4 ./. - c.-7463383_*315832del - r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050403 DNA SEQ;SEQ-NG-I - - - 1 Johan den Dunnen