Variant #0000079401 (NC_000010.10:g.123150811_135380935dup, FGFR2(NM_000141.4):c.-12023610_*88560dup)

Individual ID 00050476
Chromosome 10
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.123150811_135380935dup
DNA change (hg38) -
Published as -
ISCN -
DB-ID ACADSB_000015
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     

Haplotype     
FGFR2 NM_000141.4 ./. - c.-12023610_*88560dup - - -
OAT NM_000274.3 ./. - c.-9273523_*2935700dup - - -
UROS NM_000375.2 ./. - c.-7869364_*4326626dup - - -
CYP2E1 NM_000773.3 ./. - c.-12190089_*28467dup - - -
PLEKHA1 NM_001001974.2 ./. - c.-983532_*11191481dup - - -
ATE1 NM_001001976.1 ./. - c.-11693471_*352384dup - - -
C10orf90 NM_001004298.2 ./. - c.-7171046_*4963622dup - - -
EBF3 NM_001005463.2 ./. - c.-3618903_*8485382dup - - -
C10orf120 NM_001010912.1 ./. - c.-10921629_*1306438dup - - -
SPRN NM_001012508.3 ./. - c.-142971_*12085919dup - - -
FAM24A NM_001029888.1 ./. - c.-1519527_*10708465dup - - -
NPS NM_001030013.1 ./. - c.-6196822_*6030032dup - - -
FAM196A NM_001039762.2 ./. - c.-6387069_*5785290dup - - -
GPR123 NM_001083909.1 ./. - c.-11751034_*437920dup - - -
CTBP2 NM_001083914.1 ./. - c.-8531745_*3527276dup - - -
ARMS2 NM_001099667.1 ./. - c.-1063433_*11164486dup - - -
JAKMIP3 NM_001105521.2 ./. - c.-10767502_*1386575dup - - -
HMX3 NM_001105574.1 ./. - c.-1744756_*10483688dup - - -
ADAM8 NM_001109.4 ./. - c.-290614_*11925849dup - - -
TEX36 NM_001128202.1 ./. - c.-8009377_*4193658dup - - -
LRRC27 NM_001143757.1 ./. - c.-10995278_*1192189dup r.0? p.0? -
NKX1-2 NM_001146340.1 ./. - c.-9242423_*2985187dup - - -
TTC40 NM_001200049.2 ./. - c.-624947_*11471114dup - - -
TUBGCP2 NM_001256617.1 ./. - c.-258648_*11942459dup - - -
ACADSB NM_001609.3 ./. - c.-1617735_*10567654dup - - -
MGMT NM_002412.3 ./. - c.-8114669_*3815674dup - - -
MKI67 NM_002417.4 ./. - c.-5456662_*6746643dup - - -
HTRA1 NM_002775.4 ./. - c.-1070358_*11107060dup - - -
ADAM12 NM_003474.4 ./. - c.-7304221_*4555037dup - - -
UTF1 NM_003577.2 ./. - c.-11892982_*335989dup - - -
BNIP3 NM_004052.2 ./. - c.-1585625_*10631217dup - - -
ECHS1 NM_004092.3 ./. - c.-194098_*12025561dup - - -
DMBT1 NM_004406.2 ./. - c.-1169476_*10978021dup - - -
BUB3 NM_004725.3 ./. - c.-1763191_*10457584dup - - -
HMX2 NM_005519.1 ./. - c.-1757084_*10471296dup - - -
INPP5A NM_005539.3 ./. - c.-11200790_*785402dup - - -
DPYSL4 NM_006426.2 ./. - c.-10849757_*1362501dup - - -
PTPRE NM_006504.4 ./. - c.-6554793_*5499765dup - - -
GLRX3 NM_006541.4 ./. - c.-8783874_*3403279dup - - -
VENTX NM_014468.2 ./. - c.-11900608_*327125dup - - -
FAM53B NM_014661.3 ./. - c.-8948528_*3161000dup - - -
C10orf137 NM_015608.2 ./. - c.-4257566_*7928894dup - - -
CALY NM_015722.3 ./. - c.-230618_*11988288dup - - -
CHST15 NM_015892.4 ./. - c.-9529608_*2618854dup - - -
BCCIP NM_016567.3 ./. - c.-4361316_*7839123dup - - -
ZRANB1 NM_017580.2 ./. - c.-3480252_*8707374dup - - -
NSMCE4A NM_017615.2 ./. - c.-11646255_*565976dup - - -
DHX32 NM_018180.2 ./. - c.-7811542_*4374445dup - - -
CUZD1 NM_022034.5 ./. - c.-10775576_*1440983dup - - -
LHPP NM_022126.3 ./. - c.-2999621_*9079006dup - - -
IKZF5 NM_022466.5 ./. - c.-10612923_*1602485dup - - -
C10orf88 NM_024942.3 ./. - c.-10667241_*1541132dup - - -
FAM175B NM_032182.3 ./. - c.-3339588_*8857395dup - - -
SYCE1 NM_130784.2 ./. - c.-36+757_*12216983dup - - -
MTG1 NM_138384.2 ./. - c.-12056914_*147266dup - - -
PWWP2B NM_138499.3 ./. - c.-11059920_*1150387dup - - -
BTBD16 NM_144587.2 ./. - c.-880261_*11283335dup - - -
PRAP1 NM_145202.4 ./. - c.-12010111_*214991dup - - -
FANK1 NM_145235.3 ./. - c.-4434401_*7682928dup - - -
ZNF511 NM_145806.2 ./. - c.-11971637_*254565dup - - -
MMP21 NM_147191.1 ./. - c.-7916545_*4304420dup - - -
CLRN3 NM_152311.3 ./. - c.-5689887_*6525602dup - - -
KNDC1 NM_152643.6 ./. - c.-11823161_*342541dup - - -
FAM24B NM_152644.2 ./. - c.-10742112_*1457952dup - - -
PAOX NM_152911.2 ./. - c.-12042010_*175976dup - - -
PSTK NM_153336.2 ./. - c.-1589185_*10631247dup - - -
GPR26 NM_153442.3 ./. - c.-2275113_*9933259dup - - -
C10orf91 NM_173541.2 ./. - c.-11107943_*1119370dup - - -
STK32C NM_173575.2 ./. - c.-1259598_*10870703dup - - -
TCERG1L NM_174937.3 ./. - c.-2271037_*9740614dup - - -
NKX6-2 NM_177400.2 ./. - c.-781483_*11447609dup - - -
CPXM2 NM_198148.2 ./. - c.-9729760_*2355469dup - - -
FUOM NM_198472.2 ./. - c.-209424_*12018192dup - - -
TACC2 NM_206862.2 ./. - c.-598238_*11367364dup r.0? p.0? -
FOXI2 NM_207426.2 ./. - c.-6384727_*5843706dup - - -
METTL10 NM_212554.2 ./. - c.-8900533_*3298261dup - - -
MIR202 NR_030170.1 ./. - n.-319811_*11910204dup r.0? p.0? -
SPRNP1 NR_033789.2 ./. - n.1744_*12229627dup - - -
MIR4296 NR_036178.1 ./. - n.-8659496_*3570541dup r.0? p.0? -
MIR4297 NR_036179.1 ./. - n.-3739297_*8490752dup r.0? p.0? -
MIR378C NR_036180.1 ./. - n.-2620004_*9610040dup r.0? p.0? -
MIR3941 NR_037506.1 ./. - n.-1025670_*11204352dup r.0? p.0? -
MIR3944 NR_037509.1 ./. - n.-195768_*12034249dup r.0? p.0? -
MIR4484 NR_039704.1 ./. - n.-4357498_*7872544dup r.0? p.0? -
CTAGE7P NR_044994.1 ./. - n.-8753462_*3473833dup r.0? p.0? -
LINC00601 NR_073453.1 ./. - n.-7270487_*4951627dup r.0? p.0? -
FANK1-AS1 NR_102707.1 ./. - n.-7719093_*4509946dup r.0? p.0? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050421 DNA SEQ;SEQ-NG-I - - - 1 Johan den Dunnen