Variant #0000079506 (NC_000007.13:g.121000064_135573959del, FLNC(NM_001458.4):c.-7470628_*7075382del)

Individual ID 00050581
Chromosome 7
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.121000064_135573959del
DNA change (hg38) -
Published as -
ISCN -
DB-ID IMPDH1_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     

P-domain     
LEP NM_000230.2 ./. - c.-6881324_*7679143del r.0? p.0? -
GRM8 NM_000845.2 ./. - c.-8690701_*5079109del r.0? p.0? -
IMPDH1 NM_000883.3 ./. - c.-7524004_*7032997del r.0? p.0? -
FAM71F2 NM_001012454.3 ./. - c.-7312388_*7250746del r.0? p.0? -
PODXL NM_001018111.2 ./. - c.-4332841_*10189006del r.0? p.0? -
FEZF1 NM_001024613.2 ./. - c.-13629468_*941987del r.0? p.0? -
FAM3C NM_001040020.1 ./. - c.-14537745_467+33del - - -
NRF1 NM_001040110.1 ./. - c.-8269955_*6178938del r.0? p.0? -
POT1 NM_001042594.1 ./. - c.-11004785_*3463952del r.0? p.0? -
AKR1B15 NM_001080538.2 ./. - c.-13234084_*1309658del r.0? p.0? -
IRF5 NM_001098629.1 ./. - c.-7578051_*6985087del r.0? p.0? -
PRRT4 NM_001114726.2 ./. - c.-7572417_*6991222del r.0? p.0? -
CPA5 NM_001127441.1 ./. - c.-8985186_*5565521del r.0? p.0? -
AHCYL2 NM_001130720.2 ./. - c.-7864854_*6507073del r.0? p.0? -
C7orf73 NM_001130929.1 ./. - c.-14347264_*215046del r.0? p.0? -
STRIP2 NM_001134336.1 ./. - c.-8074250_*6451049del r.0? p.0? -
TMEM229A NM_001136002.1 ./. - c.-11900902_*2671851del r.0? p.0? -
SPAM1 NM_001174044.1 ./. - c.-2565840_*11973936del r.0? p.0? -
SMKR1 NM_001195243.1 ./. - c.-8142602_*6421677del r.0? p.0? -
CALU NM_001219.4 ./. - c.-7379434_*7164738del r.0? p.0? -
FLNC NM_001458.4 ./. - c.-7470628_*7075382del r.0? p.0? -
AKR1B1 NM_001628.2 ./. - c.-1430145_*13127416del r.0? p.0? -
ARF5 NM_001662.3 ./. - c.-6228489_*8342606del r.0? p.0? -
OPN1SW NM_001708.2 ./. - c.-7158115_*7412530del r.0? p.0? -
CPA1 NM_001868.2 ./. - c.-9020298_*5546107del r.0? p.0? -
CPA2 NM_001869.2 ./. - c.-8906658_*5644372del r.0? p.0? -
PTPRZ1 NM_002851.2 ./. - c.-513490_*13872685del r.0? p.0? -
UBE2H NM_003344.3 ./. - c.-5981564_*8474713del r.0? p.0? -
WASL NM_003941.2 ./. - c.-12185171_*2324509del r.0? p.0? -
ATP6V1F NM_004231.3 ./. - c.-7502895_*7068327del r.0? p.0? -
NDUFA5 NM_005000.2 ./. - c.-12376110_*2182109del r.0? p.0? -
GPR37 NM_005302.3 ./. - c.-11168929_*3386515del r.0? p.0? -
SMO NM_005631.4 ./. - c.-7828929_*6721667del r.0? p.0? -
AASS NM_005763.3 ./. - c.-13789760_*716479del r.0? p.0? -
PAX4 NM_006193.2 ./. - c.-8318385_*6251054del r.0? p.0? -
COPG2 NM_012133.4 ./. - c.-5220451_*9146453del r.0? p.0? -
HYAL4 NM_012269.2 ./. - c.-2485797_*12056750del r.0? p.0? -
SLC13A4 NM_012450.2 ./. - c.-161715_*14366247del r.0? p.0? -
TNPO3 NM_012470.3 ./. - c.-6879135_*7595407del r.0? p.0? -
MKLN1 NM_013255.4 ./. - c.-10012595_*4401472del r.0? p.0? -
CNOT4 NM_013316.3 ./. - c.-379415_*14047573del r.0? p.0? -
HILPDA NM_013332.3 ./. - c.-7096082_*7476445del r.0? p.0? -
WDR91 NM_014149.3 ./. - c.-677705_*13870839del r.0? p.0? -
SND1 NM_014390.2 ./. - c.-6292364_*7841849del r.0? p.0? -
KLHDC10 NM_014997.3 ./. - c.-8710420_*5803373del r.0? p.0? -
NUP205 NM_015135.2 ./. - c.-14242629_*240655del r.0? p.0? -
POT1 NM_015450.2 ./. - c.-11004523_*3463952del r.0? p.0? -
CPA4 NM_016352.3 ./. - c.-8932957_*5611443del r.0? p.0? -
ZC3HC1 NM_016478.3 ./. - c.-5882753_*8658440del r.0? p.0? -
TAS2R16 NM_016945.2 ./. - c.-12938271_*1634749del r.0? p.0? -
CHCHD3 NM_017812.2 ./. - c.-2807262_*11470334del r.0? p.0? -
CADPS2 NM_017954.10 ./. - c.-13047568_*960155del r.0? p.0? -
RBM28 NM_018077.2 ./. - c.-7590112_*6950786del r.0? p.0? -
TMEM140 NM_018295.3 ./. - c.-13832983_*724208del r.0? p.0? -
METTL2B NM_018396.2 ./. - c.-7116756_*7431989del r.0? p.0? -
CEP41 NM_018718.2 ./. - c.-5493152_*9038668del r.0? p.0? -
AKR1B10 NM_020299.4 ./. - c.-13212600_*1348118del r.0? p.0? -
FSCN3 NM_020369.2 ./. - c.-6233844_*8332283del r.0? p.0? -
PLXNA4 NM_020911.1 ./. - c.-3312865_*10815174del r.0? p.0? -
EXOC4 NM_021807.3 ./. - c.-11937794_*1824678del r.0? p.0? -
LRRC4 NM_022143.4 ./. - c.-7903094_*6668668del r.0? p.0? -
SLC13A1 NM_022444.3 ./. - c.-12733959_*1755508del r.0? p.0? -
CCDC136 NM_022742.4 ./. - c.-7432402_*7112112del r.0? p.0? -
C7orf49 NM_024033.3 ./. - c.-718694_*13851299del r.0? p.0? -
GCC1 NM_024523.5 ./. - c.-8348723_*6222004del r.0? p.0? -
FAM71F1 NM_032599.2 ./. - c.-7355432_*7202792del r.0? p.0? -
SLC35B4 NM_032826.4 ./. - c.-1572456_*12979521del r.0? p.0? -
TMEM209 NM_032842.3 ./. - c.-5728744_*8806227del r.0? p.0? -
CALD1 NM_033138.3 ./. - c.-13464566_*920863del r.0? p.0? -
TSGA13 NM_052933.2 ./. - c.-5203010_*9353790del r.0? p.0? -
ASB15 NM_080928.3 ./. - c.-2249090_*12296924del r.0? p.0? -
KLF14 NM_138693.2 ./. - c.-5155099_*9417825del r.0? p.0? -
RNF133 NM_139175.1 ./. - c.-13234987_*1337778del r.0? p.0? -
LRGUK NM_144648.1 ./. - c.-12812057_*1625232del r.0? p.0? -
ZNF800 NM_176814.3 ./. - c.-8541904_*6011804del r.0? p.0? -
MEST NM_177524.2 ./. - c.-9126174_*5429062del r.0? p.0? -
AGBL3 NM_178563.3 ./. - c.-13671448_*753946del r.0? p.0? -
IQUB NM_178827.4 ./. - c.-12399418_*2092733del r.0? p.0? -
STRA8 NM_182489.1 ./. - c.-13916667_*630715del r.0? p.0? -
RNF148 NM_198085.1 ./. - c.-13231155_*1341823del r.0? p.0? -
BPGM NM_199186.2 +/. - c.-13332008_*1210176del r.0? p.0? -
KCP NM_199349.2 ./. - c.-7023229_*7530223del r.0? p.0? -
FAM180A NM_205855.3 ./. - c.-140631_*14415295del r.0? p.0? -
LMOD2 NM_207163.1 ./. - c.-2295954_*12270160del r.0? p.0? -
TPI1P2 NR_002187.3 ./. - n.-7695213_*6876666del r.0? p.0? -
HYALP1 NR_002731.1 ./. - n.-2454129_*12114475del r.0? p.0? -
MESTIT1 NR_004382.1 ./. - n.-5442946_*9126834del r.0? p.0? -
LINC01000 NR_024368.1 ./. - n.-7281231_*7272907del r.0? p.0? -
SND1-IT1 NR_027330.1 ./. - n.-6637498_*7933829del r.0? p.0? -
MIR29A NR_029503.1 ./. - n.-5012390_*9561442del r.0? p.0? -
MIR96 NR_029512.1 ./. - n.-6159350_*8414468del r.0? p.0? -
MIR29B1 NR_029517.1 ./. - n.-5011661_*9562154del r.0? p.0? -
MIR129-1 NR_029596.1 ./. - n.-6847861_*7725963del r.0? p.0? -
MIR182 NR_029614.1 ./. - n.-6163627_*8410159del r.0? p.0? -
MIR183 NR_029615.1 ./. - n.-6159105_*8414681del r.0? p.0? -
MIR335 NR_029899.1 ./. - n.-9135888_*5437914del r.0? p.0? -
MIR592 NR_030323.1 ./. - n.-8875721_*5698078del r.0? p.0? -
MIR593 NR_030324.1 ./. - n.-6721849_*7851947del r.0? p.0? -
FEZF1-AS1 NR_036484.1 ./. - n.-943648_*13623828del r.0? p.0? -
MIR3654 NR_037427.1 ./. - n.-2854284_*11719556del r.0? p.0? -
RNA5SP244 NR_048572.1 ./. - n.-8396042_*6177742del r.0? p.0? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050526 DNA SEQ;SEQ-NG-I - - - 1 Johan den Dunnen