All variants in the HBB gene

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

13 entries on 1 page. Showing entries 1 - 13.
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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.-133G>A - r.(?) p.(=) - VUS g.5248384C>T g.5227154C>T - - HBB_003005 - - - rs72561473 Germline - - - 0 - Andreas Laner
-/. 1 c.-133G>A - r.(=) p.(=) - benign g.5248384C>T g.5227154C>T -50-83G>A - HBB_003005 - - - - Germline - - - 0 - Kees Harteveld
-/. 1 c.-133G>A - r.(=) p.(=) - benign g.5248384C>T g.5227154C>T -50-83G>A - HBB_003005 - - - - Germline - - - 0 - Kees Harteveld
-/. 1 c.-133G>A - r.(=) p.(=) - benign g.5248384C>T g.5227154C>T -50-83G>A - HBB_003005 - - - - Germline - - - 0 - Kees Harteveld
-/. 1 c.-133G>A - r.(=) p.(=) - benign g.5248384C>T g.5227154C>T -50-83G>A - HBB_003005 - - - - Germline - - - 0 - Kees Harteveld
-/. 1 c.-133G>A - r.(=) p.(=) - benign g.5248384C>T g.5227154C>T -50-83G>A - HBB_003005 - - - - Germline - - - 0 - Kees Harteveld
-/. 1 c.-133G>A - r.(=) p.(=) - benign g.5248384C>T g.5227154C>T -50-83G>A - HBB_003005 - - - - Germline - - - 0 - Kees Harteveld
-/. 1 c.-133G>A - r.(=) p.(=) - benign g.5248384C>T g.5227154C>T -50-83G>A - HBB_003005 - - - - Germline - - - 0 - Kees Harteveld
-/. 1 c.-133G>A - r.(=) p.(=) - benign g.5248384C>T g.5227154C>T -50-83G>A - HBB_003005 - - - - Germline - - - 0 - Kees Harteveld
-/. 1 c.-133G>A - r.(=) p.(=) - benign g.5248384C>T g.5227154C>T -50-83G>A - HBB_003005 - - - - Germline - - - 0 - Kees Harteveld
-/. 1 c.-133G>A - r.(=) p.(=) - benign g.5248384C>T g.5227154C>T -50-83G>A - HBB_003005 - - - - Germline - - - 0 - Kees Harteveld
-/. 1 c.-133G>A - r.(=) p.(=) - benign g.5248384C>T g.5227154C>T -50-83G>A - HBB_003005 - - - - Germline - - - 0 - Kees Harteveld
?/. - c.-133G>A - r.(=) p.(=) - VUS g.5248384C>T g.5227154C>T -83 G>A - HBB_003005 β-thalassaemia IthaNet-3077 - - SUMMARY record - - - 0 - IthaNet - Petros Kountouris
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