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.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 1 c.50del - pathogenic r.(?) p.(Gly17Alafs*3) Parent #1 g.5248202del g.5226972del - - HBB_004020 - - - - Germline - - - 0 - DNA SEQ - - Healthy/Control - - - - - Germany Iranian - 0 - - 1 Andreas Laner
+/. - c.50del - pathogenic r.(?) p.(Gly17Alafs*3) Unknown g.5248202del g.5226972del CD 15/16 (-G), 49delG - HBB_004020 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-74 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
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