Variant #0000603237 (NC_000011.9:g.5248201G>A, HBB(NM_000518.4):c.51C>T)
Chromosome |
11 |
Allele |
Unknown |
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.5248201G>A |
DNA change (hg38) |
g.5226971G>A |
Published as |
CD 16 GGC>GGT [Gly>Gly] |
ISCN |
- |
DB-ID |
HBB_004151 |
Variant remarks |
β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis |
Reference |
IthaNet-76 |
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 |

Variant on transcripts
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