Variant #0000170995 (NC_000011.9:g.5247858_5255271del, HBB(NM_000518.4):c.-7020_264del)

Individual ID 00105072
Chromosome 11
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.5247858_5255271del
DNA change (hg38) g.5226628_5234041del
Published as -
ISCN -
DB-ID HBB_003189
Variant remarks Hb Lepore Boston Washington
Reference PubMed: Pirastru 2017, Journal: Pirastru 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2017-06-17 16:04:24 +02:00 (CEST)
Date last edited 2019-11-04 20:22:20 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
HBB NM_000518.4 +/. _1_2 c.-7020_264del Hb Lepore r.? p.?
HBD NM_000519.3 +/. 2_3_ c.265_*6336del Hb Lepore r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000105545 DNA MLPA;PCR;SEQ - - HBB, HBD 1 Johan den Dunnen