Full data view for gene HBB

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

6 entries on 1 page. Showing entries 1 - 6.
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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     
+/. 1i c.93-1G>C - r.spl p.(?) Parent #1 - pathogenic g.5248030C>G g.5226800C>G - - HBB_001151 - - - rs33943001 Germline - - - 0 - DNA SEQ - - Healthy/Control - - - - - Germany - - 0 - - 1 Andreas Laner
+/. 1i c.93-1G>C - r.spl p.? Unknown - pathogenic g.5248030C>G g.5226800C>G - - HBB_001151 - - - - Germline - - - 0 - DNA SEQ - - - - - Fam72675 - - (Netherlands) - - 0 - - 1 Kees Harteveld
+/. 1i c.93-1G>C - r.spl p.? Unknown - pathogenic g.5248030C>G g.5226800C>G - - HBB_001151 - - - - Germline - - - 0 - DNA SEQ - - - - - Fam90890 - - (Netherlands) - - 0 - - 1 Kees Harteveld
+/. - c.93-1G>C - r.spl? p.? Unknown - pathogenic g.5248030C>G g.5226800C>G - - HBB_001151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 1i c.93-1G>C - r.spl p.? Unknown - VUS g.5248030C>G g.5226800C>G IVS-I-130 (G->C); TTAG^GCTG->TTAC GCTG beta0 - HBB_001151 - data from Globin Gene Server (HbVar-831), OMIM:var0418, PubMed: Yamamoto K - rs33943001 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+/. - c.93-1G>C - r.spl p.? Unknown - pathogenic g.5248030C>G g.5226800C>G IVS I-130 G>C - HBB_001151 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-118 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
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