Full data view for gene HBB

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

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

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.93-38G>A - r.(?) p.(=) Unknown - benign g.5248067C>T g.5226837C>T IVS I-93 G>A - HBB_004170 - IthaNet-2047 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.316-3C>T - r.spl? p.? Unknown - VUS g.5246959G>A g.5225729G>A IVS II-848 C>T - HBB_004170 β-thalassaemia IthaNet-3045 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
Legend   How to query