Variant #0000602470 (NC_000011.9:g.5248135_5248427del, HBB(NM_000518.4):c.-176_92+25del)

Individual ID 00268649
Chromosome 11
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.5248135_5248427del
DNA change (hg38) g.5226905_5227197del
Published as -
ISCN -
DB-ID HBB_001267 See all 3 reported entries
Variant remarks -
Reference data from Globin Gene Server (HbVar-977), PubMed: Aulehla-Scholz, PubMed: Diaz-Chico
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner HbVar - Belinda Giardine and Ross Hardison
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2019-06-05 12:00:00 +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_1i c.-176_92+25del - r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000269778 DNA ? - - HBB 1 HbVar - Belinda Giardine and Ross Hardison