Variant #0000441220 (NC_000022.10:g.19711604G>C, GP1BB(NM_000407.4):c.238G>C)

Individual ID 00016743
Chromosome 22
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.19711604G>C
DNA change (hg38) g.19724081G>C
Published as -
ISCN -
DB-ID GP1BB_000039
Variant remarks -
Reference PubMed: Hadjkacem 2010
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 ?/. - c.238G>C r.(?) p.(Ala80Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016704 DNA ? - - GP1BB 3 Anna Savoia