Variant #0000079538 (NC_000022.10:g.18893563_21464119del, LZTR1(NM_006767.3):c.-2443098_*112482del)

Individual ID 00050613
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.18893563_21464119del
DNA change (hg38) -
Published as -
ISCN -
DB-ID ARVCF_000003
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 (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.-2234887_*322765del r.0? p.0?
GP1BB NM_000407.4 +/. - c.-817530_*1752132del r.0? p.0?
COMT NM_000754.3 ./. - c.-1035949_*1507860del r.0? p.0?
UFD1L NM_001035247.2 ./. - c.-1997511_*544700del r.0? p.0?
CDC45 NM_001178010.2 +/. - c.-573929_*1956117del r.0? p.0?
DGCR8 NM_001190326.1 ./. - c.-1174621_*1366488del r.0? p.0?
TMEM191B NM_001242313.1 ./. - c.-1484285_*1083793del r.0? p.0?
ARVCF NM_001670.2 ./. - c.-1460080_*1064716del r.0? p.0?
SEPT5 NM_002688.5 ./. - c.-808549_*1754112del r.0? p.0?
RANBP1 NM_002882.2 ./. - c.-1211610_*1349544del r.0? p.0?
CLDN5 NM_003277.3 ./. - c.-1951474_*617559del r.0? p.0?
HIRA NM_003325.3 ./. - c.-2045120_*425400del r.0? p.0?
ZNF74 NM_003426.3 ./. - c.-1855356_*702861del r.0? p.0?
MRPL40 NM_003776.2 ./. - c.-526515_*2040634del r.0? p.0?
SLC7A4 NM_004173.2 ./. - c.-77340_*2489781del r.0? p.0?
SNAP29 NM_004782.3 ./. - c.-2319836_*221995del r.0? p.0?
DGCR2 NM_005137.2 ./. - c.-2354400_*132815del r.0? p.0?
CRKL NM_005207.3 ./. - c.-2378660_*159986del r.0? p.0?
GSC2 NM_005315.1 ./. - c.-2326323_*242941del r.0? p.0?
P2RX6 NM_005446.3 ./. - c.-2475901_*83213del r.0? p.0?
DGCR6 NM_005675.4 ./. - c.-325_*2564917del r.0? p.0?
SLC25A1 NM_005984.3 ./. - c.-2297933_*270080del r.0? p.0?
TXNRD2 NM_006440.3 ./. - c.-1534793_*969833del r.0? p.0?
LZTR1 NM_006767.3 ./. _1_21_ c.-2443098_*112482del r.0? p.0?
CLTCL1 NM_007098.3 ./. - c.-2184955_*273940del r.0? p.0?
ZDHHC8 NM_013373.3 ./. - c.-1225908_*1331196del r.0? p.0?
RIMBP3 NM_015672.1 ./. - c.-1002818_*1562819del r.0? p.0?
MED15 NM_015889.3 ./. - c.-1968403_*523128del r.0? p.0?
PRODH NM_016335.4 ./. - c.-2540257_*7125del - -
DGCR14 NM_022719.2 ./. - c.-2331966_*228146del r.0? p.0?
TRMT2A NM_022727.5 ./. - c.-1359690_*1206523del r.0? p.0?
RTN4R NM_023004.5 ./. - c.-1208504_*1335671del r.0? p.0?
C22orf29 NM_024627.5 ./. - c.-1622259_*945127del r.0? p.0?
THAP7 NM_030573.2 ./. - c.-107919_*2460606del r.0? p.0?
KLHL22 NM_032775.3 ./. - c.-614106_*1902797del r.0? p.0?
DGCR6L NM_033257.3 ./. - c.-1156608_*1408635del r.0? p.0?
GNB1L NM_053004.2 ./. - c.-1621894_*882669del r.0? p.0?
TSSK2 NM_053006.4 ./. - c.-225350_*2344130del r.0? p.0?
PI4KA NM_058004.3 ./. - c.-251106_*2168772del r.0? p.0?
TBX1 NM_080647.1 ./. - c.-850792_*1709729del r.0? p.0?
AIFM3 NM_144704.2 ./. - c.-2426073_*128799del r.0? p.0?
TANGO2 NM_152906.4 ./. - c.-1115246_*1411934del r.0? p.0?
SCARF2 NM_153334.4 ./. - c.-672078_*1886102del r.0? p.0?
C22orf39 NM_173793.4 ./. - c.-2028797_*538225del r.0? p.0?
DGCR5 NR_002733.2 ./. - n.-64448_*2481977del r.0? p.0?
P2RX6P NR_002829.1 ./. - n.-65581_*2503118del r.0? p.0?
PI4KAP1 NR_003563.1 ./. - n.-1065424_*1490168del r.0? p.0?
TUBA3FP NR_003608.1 ./. - n.-95543_*2468929del r.0? p.0?
DGCR11 NR_024157.1 ./. - n.-2428231_*140112del r.0? p.0?
LINC00895 NR_024381.1 ./. - n.-1909757_*660090del r.0? p.0?
POM121L4P NR_024592.1 ./. - n.-2150280_*418110del r.0? p.0?
DGCR10 NR_026651.1 ./. - n.-116574_*2453056del r.0? p.0?
TMEM191A NR_026815.1 ./. - n.-2161839_*405228del r.0? p.0?
LINC00896 NR_026919.1 ./. - n.-1300292_*1268059del r.0? p.0?
THAP7-AS1 NR_027051.1 ./. - n.-2462648_*99456del r.0? p.0?
MIR185 NR_029706.1 ./. - n.-1127099_*1443376del r.0? p.0?
MIR649 NR_030379.1 ./. - n.-75558_*2494902del r.0? p.0?
MIR1286 NR_031618.1 ./. - n.-1227385_*1343094del r.0? p.0?
MIR1306 NR_031706.1 ./. - n.-1180018_*1390454del r.0? p.0?
MIR3618 NR_037412.1 ./. - n.-1179706_*1390763del r.0? p.0?
BCRP2 NR_037566.1 ./. - n.-2563742_212-6099del - -
MIR4761 NR_039918.1 ./. - n.-1057713_*1512762del r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050558 DNA SEQ;SEQ-NG-I - - - 1 Johan den Dunnen