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 International |
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) |

Variant on transcripts
Screenings
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