Variant #0000408062 (NC_000023.10:g.153570408_153861108dup, G6PD(NM_000402.3):c.-148_*609[2])

Individual ID 00183135
Chromosome X
Allele Maternal (inferred)
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.153570408_153861108dup
DNA change (hg38) g.154342193_154632893dup
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 (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     

Protein level     
TAZ NM_000116.3 ./. - c.-69773_*211765dup r.0? p.0? - -
EMD NM_000117.2 ./. - c.-37437_*251551dup r.0? p.0? - -
G6PD NM_000402.3 +/. _1_13_ c.-148_*609[2] r.? p.? - -
DNASE1L1 NM_001009932.1 ./. - c.-221311_*60640dup r.0? p.0? - -
G6PD NM_001042351.1 +/. _1_13_ c.-113_*609[2] r.? p.? - -
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