Variant #0000879261 (NC_000021.8:g.46330651del, NM_000211.3:c.49del (ITGB2))

Individual ID 00417991
Chromosome 21
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.46330651del
DNA change (hg38) g.44910736del
Published as c.49delC
ISCN -
DB-ID ITGB2_000235
Variant remarks -
Reference Fischer unpubl., PubMed: Van De Vijver 2012, Journal: Van De Vijver
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Dirk Roos
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2022-09-27 16:04:35 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ITGB2 NM_000211.3 +/. 2 c.49del r.(?) p.(Leu17SerfsTer33)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000419286 DNA SEQ - - ITGB2 1 Dirk Roos


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