Genomic variant #0000018697

Individual ID 00001517
Chromosome 6
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.156654465_163410727del
DNA change (hg38) -
Published as -
ISCN -
DB-ID SNX9_000003
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Gijs Santen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PLG NM_000301.3 ?/? - c.-4468872_*2236634del - r.0? p.0?
SOD2 NM_000636.2 ?/? - c.-3296528_*3449060del - r.0? p.0?
IGF2R NM_000876.2 ?/? - c.-3735814_*2884611del - r.0? v
SYTL3 NM_001009991.3 ?/? - c.-2416964_*4225091del - r.0? p.0?
SYNJ2 NM_001178088.1 ?/? - c.-1784355_*4893331del - r.0? p.0?
C6orf99 NM_001195032.1 ?/? - c.-2655274_*4079482del - r.0? p.0?
MAS1 NM_002377.2 ?/? - c.-3673523_*3081762del - r.0? p.0?
SLC22A1 NM_003057.2 ?/? - c.-3888503_*2831113del - r.0? p.0?
SLC22A2 NM_003058.3 ?/? - c.-2730938_*3983999del - r.0? p.0?
EZR NM_003379.4 ?/. _1_13_ c.-4171602_*2533481del - r.0? p.0?
PARK2 NM_004562.2 ?/? - c.-262027_*5116666del - r.0? p.0?
LPA NM_005577.2 ?/? - c.-2323440_*4298296del - r.0? p.0?
ACAT2 NM_005891.2 ?/? - c.-3528655_*3210866del - r.0? p.0?
MAP3K4 NM_005922.2 ?/? - c.-4758499_*1872825del - r.0? p.0?
DYNLT1 NM_006519.2 ?/? - c.-4344987_*2403394del - r.0? p.0?
MRPL18 NM_014161.3 ?/? - c.-3557155_*3191572del - r.0? p.0?
SNX9 NM_016224.3 ?/? - c.-1590002_*5046857del - r.0? p.0?
TMEM242 NM_018452.4 ?/? - c.-5666196_*1059468del - r.0? p.0?
AGPAT4 NM_020133.2 ?/? - c.-1715847_*4903107del - r.0? p.0?
TULP4 NM_020245.3 ?/? - c.-2080584_*4483001del - r.0? p.0?
ARID1B NM_020732.3 ?/? - c.-444599_*5881702del - r.0? p.0?
TMEM181 NM_020823.1 ?/? - c.-2303014_*4357807del - r.0? p.0?
SLC22A3 NM_021977.3 ?/? - c.-4114987_*2538639del - r.0? p.0?
TCP1 NM_030752.2 ?/? - c.-3200227_*3545612del - r.0? p.0?
RSPH3 NM_031924.4 ?/? - c.-3989719_*2744105del - r.0? p.0?
FNDC1 NM_032532.2 ?/? - c.-2936164_*3718253del - r.0? p.0?
SERAC1 NM_032861.3 ?/? - c.-4821557_*1877933del - r.0? p.0?
TAGAP NM_054114.3 ?/? - c.-3944875_*2802394del - r.0? p.0?
PACRG NM_152410.2 ?/? - c.-6493923_292-72455del - r.0? p.0?
WTAP NM_152857.2 ?/? - c.-3494279_*3241322del - r.0? p.0?
ZDHHC14 NM_153746.1 ?/? - c.-1148589_*5316573del - r.0? p.0?
PNLDC1 NM_173516.1 ?/? - c.-3567007_*3169178del - r.0? p.0?
GTF2H5 NM_207118.2 ?/? - c.-1934997_*4797538del - r.0? p.0?
SNORA20 NR_002960.1 ?/? - n.-3209314_*3546817del - r.0? p.0?
SNORA29 NR_002965.1 ?/? - n.-3203962_*3552161del - r.0? p.0?
AGPAT4-IT1 NR_024277.1 ?/? - n.-1827713_*4926681del - r.0? p.0?
LPAL2 NR_028093.1 ?/? - n.-2478571_*4233122del - r.0? p.0?
OSTCP1 NR_028496.1 ?/? - n.-4132063_*2607684del - r.0? p.0?
MIR3692 NR_037463.1 ?/? - n.-1295699_*5460495del - r.0? p.0?
MIR3918 NR_037482.1 ?/? - n.-4224942_*2531228del - r.0? p.0?
MIR4466 NR_039676.1 ?/? - n.-6309862_*446347del - r.0? p.0?
SYNJ2-IT1 NR_046796.1 ?/? - n.-1767674_*4987312del - r.0? p.0?
AIRN NR_047511.1 ?/? - n.-2982031_*3769858del - r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000001288 DNA SEQ - - ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1 10 Gijs Santen