Variant #0000079618 (NC_000023.10:g.153565841_154722429dup, G6PD(NM_000402.3):c.-148_*609[2])

Individual ID 00050693
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.153565841_154722429dup
DNA change (hg38) g.154337626_155494214dup
Published as -
ISCN -
DB-ID DKC1_000000
Variant remarks increased gene dosage
Reference PubMed: DDDS 2015, Journal: DDDS 2015
ClinVar ID -
dbSNP ID -
Origin Germline
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     

P-domain     

Protein level     
TAZ NM_000116.3 ./. - c.-74340_*1073086dup - - - - -
EMD NM_000117.2 ./. - c.-42004_*1112872dup - - - - -
F8 NM_000132.3 ./. - c.-471602_*500031dup - - - - -
G6PD NM_000402.3 +/. _1_13_ c.-148_*609[2] r.? p.? - - -
F8A2 NM_001007523.1 ./. - c.-1045923_*109550dup - - - - -
F8A3 NM_001007524.1 ./. - c.-34168_*1121305dup - - - - -
DNASE1L1 NM_001009932.1 ./. - c.-1082632_*65207dup - - - - -
H2AFB1 NM_001017990.1 ./. - c.-547484_*608757dup - - - - -
H2AFB2 NM_001017991.1 ./. - c.-1044595_*111646dup - - - - -
CMC4 NM_001018024.2 ./. - c.-423471_*724277dup - - - - -
MTCP1 NM_001018025.3 ./. - c.-423508_*727838dup - - - - -
G6PD NM_001042351.1 +/. _1_13_ c.-113_*609[2] r.? p.? - - -
GAB3 NM_001081573.1 ./. - c.-743129_*340614dup - - - - -
FLNA NM_001110556.1 ./. - c.-1119672_*11376dup - - - - -
SMIM9 NM_001162936.1 ./. - c.-659801_*486189dup r.0? p.0? - - -
FAM3A NM_001171132.1 ./. - c.-978236_*169301dup - - - - -
ATP6AP1 NM_001183.4 ./. - c.-91198_*1058192dup - - - - -
CLIC2 NM_001289.4 ./. - c.-158693_*941351dup - - - - -
CTAG1B NM_001327.2 ./. - c.-874960_*280176dup - - - - -
DKC1 NM_001363.3 ./. - c.-425400_*717287dup - - - - -
GDI1 NM_001493.2 ./. - c.-99760_*1051410dup - - - - -
MPP1 NM_002436.3 ./. - c.-688781_*441611dup - - - - -
VBP1 NM_003372.5 ./. - c.-878919_*255306dup - - - - -
IKBKG NM_003639.3 ./. - c.-210479_*929753dup - - - - -
FAM50A NM_004699.3 ./. - c.-106742_*1043649dup - - - - -
RPL10 NM_006013.3 ./. - c.-60918_*1093234dup - - - - -
LAGE3 NM_006014.3 ./. - c.-1015175_*140442dup - - - - -
F8A1 NM_012151.3 ./. - c.-548809_*606664dup - - - - -
UBL4A NM_014235.3 ./. - c.-1007506_*148037dup - - - - -
PLXNA3 NM_017514.3 ./. - c.-120955_*1021401dup - - - - -
TMLHE NM_018196.3 ./. - c.996-273_*1155355dup r.0? p.0? - - -
SLC10A3 NM_019848.3 ./. - c.-1003926_*150005dup - - - - -
CTAG2 NM_020994.3 ./. - c.-840640_*314701dup - - - - -
FUNDC2 NM_023934.3 ./. - c.-689373_*439482dup - - - - -
BRCC3 NM_024332.3 ./. - c.-733962_*372950dup - - - - -
H2AFB3 NM_080720.1 ./. - c.-32841_*1123400dup - - - - -
CTAG1A NM_139250.1 ./. - c.-247630_*907506dup - - - - -
RAB39B NM_171998.2 ./. - c.-228856_*924247dup - - - - -
SNORA70 NR_000011.1 ./. - n.-62781_*1093673dup r.0? p.0? - - -
SNORA36A NR_002969.1 ./. - n.-430962_*725495dup r.0? p.0? - - -
SNORA56 NR_002984.1 ./. - n.-437432_*719028dup r.0? p.0? - - -
FAM223A NR_027401.1 ./. - c.-233638_*922238dup - - - - -
FAM223B NR_027402.1 ./. - n.-860981_*294895dup r.0? p.0? - - -
MIR1184-1 NR_036049.1 ./. - n.-606696_*549794dup r.0? p.0? - - -
MIR1184-2 NR_036259.1 ./. - n.-109582_*1046908dup r.0? p.0? - - -
TMLHE-AS1 NR_039991.1 ./. - n.-1130360_472-112dup r.(=) p.(=) - - -
MIR644B NR_049842.1 ./. - n.-431030_*725498dup r.0? p.0? - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050638 DNA SEQ;SEQ-NG-I - - - 1 Johan den Dunnen