Variant #0000603885 (NC_000011.9:g.5246852A>K, HBB(NM_000518.4):c.420T>M)
Chromosome |
11 |
Allele |
Unknown |
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.5246852A>K |
DNA change (hg38) |
g.5225622A>K |
Published as |
CD 139 AAT>AAC or AAA |
ISCN |
- |
DB-ID |
HBB_001004 See all 2 reported entries |
Variant remarks |
β-chain variant |
Reference |
IthaNet-1281 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
SUMMARY record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Genomic location of variant could not be determined |
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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