Variant #0000441228 (NC_000022.10:g.19710933C>G, GP1BB(NM_000407.4):c.-160C>G)

Individual ID 00209000
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.19710933C>G
DNA change (hg38) g.19723410C>G
Published as -133C>G
ISCN -
DB-ID GP1BB_000041
Variant remarks variant in GATA binding site promoter; in vitro analysis shows 0.84 decreased activity
Reference PubMed: Ludlow 1996
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
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 c.-160C>G r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000210057 DNA SEQ - - GP1BB 2 Johan den Dunnen