Variant #0000036470 (NC_000022.10:g.19711784_19711785dup, GP1BB(NM_000407.4):c.418_419dup)

Individual ID 00016646
Chromosome 22
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.19711784_19711785dup
DNA change (hg38) g.19724261_19724262dup
Published as -
ISCN -
DB-ID GP1BB_000011
Variant remarks -
Reference PubMed: Savoia 2014
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 Anna Savoia
Database submission license No license selected
Created by Anna Savoia
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GP1BB NM_000407.4 +/. 2 c.418_419dup r.(?) p.(Cys141Leufs*53)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016603 DNA ? - - GP1BB 1 Anna Savoia