Genomic variant #0000079618

Individual ID 00050693
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.153565841_154722429dup
DNA change (hg38) -
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 (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     

P-domain     
TAZ NM_000116.3 ./. - c.-74340_*1073086dup - - - - -
EMD NM_000117.2 ./. - c.-42004_*1112872dup - - - - -
F8 NM_000132.3 ./. - c.-471602_*500031dup - - - - -
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 ./. - c.-946755_*194374dup VUS - - - -
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