Variant #0000408064 (NC_000023.10:g.152710806_153609906dup, MECP2(NM_004992.3):c.-246944_*585012dup)

Individual ID 00183137
Chromosome X
Allele Maternal (confirmed)
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.152710806_153609906dup
DNA change (hg38) -
Published as MECP2
ISCN -
DB-ID MECP2_002820
Variant remarks -
Reference PubMed: Hu 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
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     
ABCD1 NM_000033.3 ./. - c.-279916_*600717dup r.0? p.0?
AVPR2 NM_000054.4 ./. - c.-459794_*437724dup r.0? p.0?
EMD NM_000117.2 ./. - c.-897039_*349dup r.0? p.0?
L1CAM NM_000425.4 +/. - c.-468615_*417312dup r.0? p.0?
OPN1MW NM_000513.2 ./. - c.-737361_*148375dup r.0? p.0?
PNCK NM_001039582.3 ./. - c.-670276_*224787dup r.0? p.0?
OPN1MW2 NM_001048181.2 ./. - c.-774479_*111257dup r.0? p.0?
FLNA NM_001110556.1 ./. - c.-7149_*866411dup r.0? p.0?
MECP2 NM_001110792.1 ./. - c.-246784_*585012dup r.0? p.0?
BCAP31 NM_001139457.2 +/. - c.-620787_*255586dup r.0? p.0?
BCAP31 NM_001256447.1 +/. - c.-620162_*255586dup r.? p.?
DUSP9 NM_001395.2 ./. - c.-197295_*694146dup r.0? p.0?
IRAK1 NM_001569.3 ./. - c.-324643_*566504dup r.0? p.0?
TEX28 NM_001586.2 ./. - c.-86612_*788274dup r.0? p.0?
ARHGAP4 NM_001666.4 ./. - c.-418250_*462377dup r.0? p.0?
BGN NM_001711.4 ./. - c.-49777_*836003dup r.0? p.0?
RENBP NM_002910.5 ./. - c.-399844_*489933dup r.0? p.0?
NAA10 NM_003491.3 ./. - c.-409549_*484634dup r.0? p.0?
TMEM187 NM_003492.2 ./. - c.-527719_*361607dup r.0? p.0?
IDH3G NM_004135.3 ./. - c.-550125_*340521dup r.0? p.0?
MECP2 NM_004992.3 ./. - c.-246944_*585012dup r.0? p.0?
HCFC1 NM_005334.2 ./. - c.-373615_*503992dup r.0? p.0?
PLXNB3 NM_005393.2 ./. - c.-319019_*565412dup r.0? p.0?
SLC6A8 NM_005629.3 ./. - c.-243224_*649237dup r.0? p.0?
SSR4 NM_006280.2 ./. - c.-349337_*546018dup r.0? p.0?
TKTL1 NM_012253.3 ./. - c.-813407_*51868dup r.0? p.0?
SRPK3 NM_014370.3 ./. - c.-335736_*558931dup r.0? p.0?
HAUS7 NM_017518.6 ./. - c.-873861_*2530dup r.0? p.0?
OPN1LW NM_020061.4 ./. - c.-698952_*185505dup r.0? p.0?
ATP2B3 NM_021949.3 ./. - c.-90900_*764445dup r.0? p.0?
PDZD4 NM_032512.2 ./. - c.-514153_*358002dup r.0? p.0?
TREX2 NM_080701.3 ./. - c.-898505_83dup r.? p.?
FAM58A NM_152274.3 ./. - c.-745377_*143017dup r.0? p.0?
MIR718 NR_031757.1 ./. - n.-324466_*574565dup - -
MIR3202-1 NR_036174.1 ./. - n.-535742_*363278dup - -
MIR3202-2 NR_036175.1 ./. - n.-363279_*535743dup - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184095 DNA SEQ;SEQ-NG - WES-X chromosome MECP2 1 Johan den Dunnen