Variant #0000036466 (NC_000022.10:g.19711455G>A, GP1BB(NM_000407.4):c.89G>A)

Individual ID 00016642
Chromosome 22
Allele Both (homozygous)
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.19711455G>A
DNA change (hg38) g.19723932G>A
Published as -
ISCN -
DB-ID GP1BB_000007
Variant remarks -
Reference PubMed: Gonzalez-Manchon 2003
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.89G>A r.(?) p.(Cys30Tyr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016599 DNA ? - - GP1BB 1 Anna Savoia