Full data view for gene HBB

Information The variants shown are described using the NM_000518.4 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.442T>C - r.(?) p.(Ter148GlnextTer21) Unknown - likely pathogenic g.5246830A>G g.5225600A>G HBB(NM_000518.5):c.442T>C (p.*148Qext*21) - HBB_002043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.442T>C Hb Zunyi r.(?) p.(*148Glnext*21) Unknown - VUS g.5246830A>G g.5225600A>G p.Stop148Gln - HBB_002043 - Hbvar-?, Dr Su Qiong; HbVar A-2391-2010; - - Germline - - - - - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - - - - 1 HbVar - Belinda Giardine and Ross Hardison
?/. - c.442T>C Hb Zunyi r.(?) p.(*148Glnext*21) Unknown - VUS g.5246830A>G g.5225600A>G CD 147 TAA>CAA [Stop>Gln] - HBB_002043 β-thalassaemia, β-chain variant IthaNet-3400 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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