Variant #0000079439 (NC_000022.10:g.18839287_21830562dup, LZTR1(NM_006767.3):c.-2497374_*478925dup)

Individual ID 00050514
Chromosome 22
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
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 (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)     

RNA change     

Protein     
SERPIND1 NM_000185.3 ./. - c.-2289163_*689208dup r.? p.?
GP1BB NM_000407.4 +/. - c.-871806_*2118575dup 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.?
CDC45 NM_001178010.2 +/. - c.-628205_*2322560dup r.0? p.0?
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.?
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