Variant #0000828551 (NC_000003.11:g.97483365_113953480del, IMPG2(NM_016247.3):c.?)

Individual ID 00395614
Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.97483365_113953480del
DNA change (hg38) g.97764521_114234636del
Published as chr3, g.97483365_113953480del, arr([GRCh37] 3q11.2q13.31(97483365_113953480)x1), heterozygous
ISCN -
DB-ID IMPG2_000140 See all 3 reported entries
Variant remarks no gene indicated in publication!
Reference PubMed: Perea-Romero 2021
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CPOX NM_000097.5 ?/. - c.-15641132_*816162del r.0? p.0?
DRD3 NM_000796.3 ?/. - c.-56012_*16364198del r.0? p.0?
RPL24 NM_000986.3 ?/. - c.-12547960_*3916614del r.0? p.0?
OR5H1 NM_001005338.1 ?/. - c.-368177_*16100997del r.0? p.0?
OR5H6 NM_001005479.1 ?/. - c.-499764_*15969374del r.0? p.0?
OR5H2 NM_001005482.1 ?/. - c.-518367_*15950804del r.0? p.0?
OR5H14 NM_001005514.1 ?/. - c.-384865_*16084318del r.0? p.0?
OR5H15 NM_001005515.1 ?/. - c.-404179_*16064995del r.0? p.0?
OR5K3 NM_001005516.1 ?/. - c.-626145_*15843005del - -
OR5K4 NM_001005517.1 ?/. - c.-589333_*15879817del r.0? p.0?
CD200R1L NM_001008784.2 ?/. - c.-1388909_*15051445del r.0? p.0?
KIAA2018 NM_001009899.2 ?/. - c.-538398_*15890426del r.0? p.0?
LNP1 NM_001085451.1 ?/. - c.-2637952_*13778710del - -
WDR52 NM_001164496.1 ?/. - c.-793186_*15527039del r.0? p.0?
TBC1D23 NM_001199198.2 ?/. - c.-2496498_*13910968del r.0? p.0?
ALCAM NM_001627.3 ?/. - c.-7602888_*8660185del r.0? p.0?
ATP6V1A NM_001690.3 ?/. - c.-15982609_*425206del r.0? p.0?
CD47 NM_001777.3 ?/. - c.-6143725_*10282770del - -
COL8A1 NM_001850.4 ?/. - c.-1874334_*14438500del r.0? p.0?
GPR15 NM_005290.1 ?/. - c.-767513_*15701520del r.0? p.0?
GUCA1C NM_005459.3 ?/. - c.-5280871_*11143504del r.0? p.0?
CD96 NM_005816.4 ?/. - c.-13777731_*2584827del - -
HHLA2 NM_007072.2 ?/. - c.-10538381_*5857355del r.0? p.0?
ZNF80 NM_007136.3 ?/. - c.*1620_*16471735del r.(=) p.(=)
GTPBP8 NM_014170.2 ?/. - c.-15226482_*1233714del r.0? p.0?
ZBTB11 NM_014415.3 ?/. - c.-12557722_*3886645del r.0? p.0?
MORC1 NM_014429.3 ?/. - c.-5116574_*11194447del r.0? p.0?
DZIP3 NM_014648.3 ?/. - c.-10825394_*5541280del r.0? p.0?
TOMM70A NM_014820.4 ?/. - c.-13833687_*2601043del r.0? p.0?
FILIP1L NM_014890.2 ?/. - c.-14358680_*2083753del r.0? p.0?
MYH15 NM_014981.1 ?/. - c.-5705368_*10617027del r.0? p.0?
C3orf17 NM_015412.3 ?/. - c.-1214986_*15241018del r.0? p.0?
ABI3BP NM_015429.3 ?/. - c.-13241231_*2985974del - -
PVRL3 NM_015480.2 ?/. - c.-13307500_*3100418del r.0? p.0?
IMPG2 NM_016247.3 ?/. - c.? r.0? p.0?
TRAT1 NM_016388.2 ?/. - c.-11058410_*5380756del r.0? p.0?
GRAMD1C NM_017577.4 ?/. - c.-16074392_*289155del r.0? p.0?
SIDT1 NM_017699.2 ?/. - c.-15768504_*606925del r.0? p.0?
SLC35A5 NM_017945.2 ?/. - c.-14797775_*1651897del r.0? p.0?
IFT57 NM_018010.3 ?/. - c.-6012311_*10397959del r.0? p.0?
DPPA4 NM_018189.3 ?/. - c.-4897116_*11563470del - -
NIT2 NM_020202.4 ?/. - c.-2570271_*13879368del r.0? p.0?
BBX NM_020235.5 ?/. - c.-9758745_*6429176del r.0? p.0?
KIAA1407 NM_020817.1 ?/. - c.-178167_*16200637del r.0? p.0?
KIAA1524 NM_020890.2 ?/. - c.-5645258_*10786631del r.0? p.0?
ZBED2 NM_024508.4 ?/. - c.-2640199_*13829027del r.0? p.0?
CEP97 NM_024548.2 ?/. - c.-3960156_*12469085del r.0? p.0?
QTRTD1 NM_024638.3 ?/. - c.-16292476_*148729del r.0? p.0?
NAA50 NM_025146.2 ?/. - c.-488684_*15957242del r.0? p.0?
NFKBIZ NM_031419.3 ?/. - c.-4085108_*12375265del r.0? p.0?
ARL6 NM_032146.4 ?/. - c.-583_*16436587del r.0? p.0?
CMSS1 NM_032359.3 ?/. - c.-2053459_*14056248del r.0? p.0?
RETNLB NM_032579.2 ?/. - c.-5477448_*10991260del r.0? p.0?
CCDC54 NM_032600.2 ?/. - c.-9613070_*6856059del r.0? p.0?
MINA NM_032778.4 ?/. - c.-16262762_*180663del r.0? p.0?
BOC NM_033254.2 ?/. - c.-15448349_*947771del r.0? p.0?
DCBLD2 NM_080927.3 ?/. - c.-15333310_*1034851del r.0? p.0?
CD200R1 NM_138806.3 ?/. - c.-1259776_*15159159del r.0? p.0?
DPPA2 NM_138815.3 ?/. - c.-4918363_*11529509del r.0? p.0?
SPICE1 NM_144718.3 ?/. - c.-719737_*15680789del r.0? p.0?
NXPE3 NM_145037.2 ?/. - c.-4015301_*12412682del r.0? p.0?
PLCXD2 NM_153268.3 ?/. - c.-13910728_*2388764del - -
CRYBG3 NM_153605.3 ?/. - c.-57686_*16291322del r.0? p.0?
CBLB NM_170662.3 ?/. - c.-8365915_*7894449del r.0? p.0?
ZDHHC23 NM_173570.3 ?/. - c.-16183682_*273900del r.0? p.0?
ZPLD1 NM_175056.1 ?/. - c.-4670594_*11757018del r.0? p.0?
BTLA NM_181780.3 ?/. - c.-1735275_*14701590del - -
CCDC80 NM_199511.1 ?/. - c.-1594318_*14840899del r.0? p.0?
PDCL3P4 NR_002941.2 ?/. - n.-3947913_*12521220del r.0? p.0?
LINC00636 NR_015394.1 ?/. - n.-10118687_*6305726del - -
LINC00635 NR_015414.1 ?/. - n.-6356565_*10077144del - -
ZBTB11-AS1 NR_024407.1 ?/. - n.-3911909_*12555419del r.0? p.0?
LINC00488 NR_026767.1 ?/. - n.-11413647_*5049372del r.0? p.0?
MIR3921 NR_037486.1 ?/. - n.-14270238_*2199793del - -
MIR548AB NR_039611.1 ?/. - n.-10710520_*5759512del - -
MIR4446 NR_039648.1 ?/. - n.-15830358_*639691del - -
PVRL3-AS1 NR_045114.1 ?/. - n.-3164674_*13280797del - -
ST3GAL6-AS1 NR_046683.1 ?/. - n.-15501985_*949812del - -
WDR52-AS1 NR_046728.1 ?/. - n.-15639480_*800641del r.0? p.0?
GABRR3 NR_047685.1 ?/. - n.-16199332_*222162del - -
LINC00973 XR_108458.2 ?/. - n.-1216537_*15251604del r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000396852 DNA ? - clinical exome sequencing IMPG2 1 LOVD