Variant #0000408028 (NC_000023.10:g.153670770_153670771del, GDI1(NM_001493.2):c.1186_1187del)

Individual ID 00183101
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.153670770_153670771del
DNA change (hg38) g.154442423_154442424del
Published as GDI1 S396Pfs*15
ISCN -
DB-ID GDI1_000012
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     
GDI1 NM_001493.2 ./. - c.1186_1187del r.(?) p.(Ser396Profs*15)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184059 DNA SEQ;SEQ-NG - WES-X chromosome GDI1 1 Johan den Dunnen