Variant #0000096725 (NC_000011.9:g.5248389G>T, HBB(NM_000518.4):c.-138C>A)
Individual ID |
00064926 |
Chromosome |
11 |
Allele |
Parent #1 |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.5248389G>T |
DNA change (hg38) |
g.5227159G>T |
Published as |
- |
ISCN |
- |
DB-ID |
HBB_001077 See all 12 reported entries |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
rs33944208 |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Andreas Laner |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2016-03-09 17:32:06 +01:00 (CET) |
Date last edited |
2019-11-04 20:22:20 +01:00 (CET) |

Variant on transcripts
Screenings
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