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     
+/. 1 c.76_92+27del - r.spl? p.? Unknown - pathogenic g.5248134_5248177del g.5226904_5226947del - - HBB_001265 - - - - Germline - - - 0 - DNA SEQ - - - - - Fam73063 - - (Netherlands) - - 0 - - 1 Kees Harteveld
+?/. 1_1i c.76_92+27del - r.spl p.? Unknown - VUS g.5248134_5248177del g.5226904_5226947del - - HBB_001265 44 bp deletion beta0 data from Globin Gene Server (HbVar-975), OMIM:var0355, Efremov GD; HbVar A-2391-2010, PubMed: Gonzalez-Redondo JM - rs63751076 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+/. - c.76_92+27del - r.spl? p.? Unknown - pathogenic g.5248134_5248177del g.5226904_5226947del IVS I [3 end] -44 bp (44 bp deletion) - HBB_001265 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-281 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
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