Genomic variant #0000408062

Individual ID 00183135
Chromosome X
Allele Maternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.153570408_153861108dup
DNA change (hg38) -
Published as GDI1
ISCN -
DB-ID FLNA_000307
Variant remarks -
Reference PubMed: Hu 2016
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     
TAZ NM_000116.3 ./. - c.-69773_*211765dup - r.0? p.0? -
EMD NM_000117.2 ./. - c.-37437_*251551dup - r.0? p.0? -
DNASE1L1 NM_001009932.1 ./. - c.-221311_*60640dup - r.0? p.0? -
G6PD NM_001042351.1 ./. - c.-85434_*189807dup VUS r.0? p.0? -
FLNA NM_001110556.1 ./. - c.-258351_*6809dup - r.0? p.0? -
FAM3A NM_001171132.1 ./. - c.-116915_*164734dup - r.0? p.0? -
ATP6AP1 NM_001183.4 ./. - c.-86631_*196871dup - r.0? p.0? -
CTAG1B NM_001327.2 ./. - c.-13639_*275609dup - r.0? p.0? -
GDI1 NM_001493.2 ./. - c.-95193_*190089dup - r.0? p.0? -
IKBKG NM_003639.3 ./. - c.-205912_*68432dup - - - -
FAM50A NM_004699.3 ./. - c.-102175_*182328dup - r.0? p.0? -
RPL10 NM_006013.3 ./. - c.-56351_*231913dup - r.0? p.0? -
LAGE3 NM_006014.3 ./. - c.-153854_*135875dup - r.0? p.0? -
UBL4A NM_014235.3 ./. - c.-146185_*143470dup - r.0? p.0? -
PLXNA3 NM_017514.3 ./. - c.-116388_*160080dup - r.0? p.0? -
SLC10A3 NM_019848.3 ./. - c.-142605_*145438dup - r.0? p.0? -
CTAG1A NM_139250.1 ./. - c.-243063_*46185dup - r.0? p.0? -
SNORA70 NR_000011.1 ./. - n.-58214_*232352dup - r.0? p.0? -
FAM223A NR_027401.1 ./. - n.-229071_*60917dup - - - -
FAM223B NR_027402.1 ./. - n.341_*290328dup - r.? p.? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184093 DNA SEQ;SEQ-NG - WES-X chromosome GDI1 1 Johan den Dunnen