Variant #0000036631 (NC_000022.10:g.19711462C>A, GP1BB(NM_000407.4):c.96C>A)

Individual ID 00016780
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.19711462C>A
DNA change (hg38) g.19723939C>A
Published as -
ISCN -
DB-ID GP1BB_000030 See all 2 reported entries
Variant remarks -
Reference PubMed: Ali 2013
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.96C>A r.(?) p.(Cys32*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016742 DNA ? - - GP1BB 1 Anna Savoia