All variants in the HBB gene

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

14 entries on 1 page. Showing entries 1 - 14.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     

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     

Owner     
+/. 1 c.-140C>T - r.(=) p.(=) - pathogenic g.5248391G>A g.5227161G>A -50-90C>T - HBB_001076 - - - - Germline - - - 0 - Kees Harteveld
+/. 1 c.-140C>T - r.(=) p.(=) - pathogenic g.5248391G>A g.5227161G>A -50-90C>T - HBB_001076 - - - - Germline - - - 0 - Kees Harteveld
+/. 1 c.-140C>T - r.(=) p.(=) - pathogenic g.5248391G>A g.5227161G>A -50-90C>T - HBB_001076 - - - - Germline - - - 0 - Kees Harteveld
+/. 1 c.-140C>T - r.(=) p.(=) - pathogenic g.5248391G>A g.5227161G>A -50-90C>T - HBB_001076 - - - - Germline - - - 0 - Kees Harteveld
+/. 1 c.-140C>T - r.(=) p.(=) - pathogenic g.5248391G>A g.5227161G>A -50-90C>T - HBB_001076 - - - - Germline - - - 0 - Kees Harteveld
+/. 1 c.-140C>T - r.(=) p.(=) - pathogenic g.5248391G>A g.5227161G>A -50-90C>T - HBB_001076 - - - - Germline - - - 0 - Kees Harteveld
+/. 1 c.-140C>T - r.(=) p.(=) - pathogenic g.5248391G>A g.5227161G>A -50-90C>T - HBB_001076 - - - - Germline - - - 0 - Kees Harteveld
+/. 1 c.-140C>T - r.(=) p.(=) - pathogenic g.5248391G>A g.5227161G>A -50-90C>T - HBB_001076 - - - - Germline - - - 0 - Kees Harteveld
+/. 1 c.-140C>T - r.(=) p.(=) - pathogenic g.5248391G>A g.5227161G>A -50-90C>T - HBB_001076 - - - - Germline - - - 0 - Kees Harteveld
+/. 1 c.-140C>T - r.(=) p.(=) - pathogenic g.5248391G>A g.5227161G>A -50-90C>T - HBB_001076 - - - - Germline - - - 0 - Kees Harteveld
+/. 1 c.-140C>T - r.(=) p.(=) - pathogenic g.5248391G>A g.5227161G>A -50-90C>T - HBB_001076 - - - - Germline - - - 0 - Kees Harteveld
+/. 1 c.-140C>T - r.(=) p.(=) - pathogenic g.5248391G>A g.5227161G>A -50-90C>T - HBB_001076 - - - - Germline - - - 0 - Kees Harteveld
+?/. _1 c.-140C>T - r.(?) p.(?) - VUS g.5248391G>A g.5227161G>A -90 (C->T) beta+ - HBB_001076 - data from Globin Gene Server (HbVar-754), OMIM:var0425, PubMed: Faustino P - rs34999973 Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
+/. - c.-140C>T - r.(=) p.(=) - pathogenic g.5248391G>A g.5227161G>A -90 (C>T) - HBB_001076 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-7 - - SUMMARY record - - - 0 - IthaNet - Petros Kountouris
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