Variant #0000441225 (NC_000022.10:g.(?_19711066)_(19712297_?)del, GP1BB(NM_000407.4):c.0)

Individual ID 00016839
Chromosome 22
Allele Parent #2
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.(?_19711066)_(19712297_?)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID GP1BB_000040 See all 7 reported entries
Variant remarks -
Reference PubMed: Kenny 1999
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     
GP1BB NM_000407.4 +/. _1_2_ c.0 r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016804 DNA ? - - GP1BB 2 Anna Savoia