Variant #0000603494 (NC_000011.9:g.5248202C>T, HBB(NM_000518.4):c.50G>A)
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.5248202C>T |
DNA change (hg38) |
g.5226972C>T |
Published as |
CD 16 GGC>GAC (Hb J-Georgia , Hb J-Ireland , Hb J-Trinidad , Hb N-New Haven) |
ISCN |
- |
DB-ID |
HBB_000699 See all 60 reported entries |
Variant remarks |
β-chain variant |
Reference |
IthaNet-854 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
SUMMARY record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (large NGS studies) |
2.0E-5 View details |
Owner |
IthaNet - Petros Kountouris |

Variant on transcripts
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