Variant #0000603937 (NC_000011.9:g.5247969A>T, HBB(NM_000518.4):c.153T>A)
Chromosome |
11 |
Allele |
Unknown |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Does not affect function |
Classification method |
- |
Clinical classification |
benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.5247969A>T |
DNA change (hg38) |
g.5226739A>T |
Published as |
CD 50 ACT>ACA [Thr>Thr] |
ISCN |
- |
DB-ID |
HBB_004064 |
Variant remarks |
- |
Reference |
IthaNet-2049 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
SUMMARY record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
IthaNet - Petros Kountouris |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |

Variant on transcripts
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