All variants in the HBB gene

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     

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.-92C>G - r.(=) p.(=) - VUS g.5248343G>C g.5227113G>C -50-42C>G - HBB_001956 - - - - Germline - - - 0 - Kees Harteveld
?/. _1 c.-92C>G - r.(=) p.(=) - VUS g.5248343G>C g.5227113G>C -50-42C>G - HBB_001956 - - - - Germline - - - 0 - Kees Harteveld
?/. _1 c.-92C>G - r.(=) p.(=) - VUS g.5248343G>C g.5227113G>C -50-42C>G - HBB_001956 - - - - Germline - - - 0 - Kees Harteveld
?/. _1 c.-92C>G - r.(=) p.(=) - VUS g.5248343G>C g.5227113G>C -50-42C>G - HBB_001956 - - - - Germline - - - 0 - Kees Harteveld
+?/. _1 c.-92C>G - r.(?) p.(?) - VUS g.5248343G>C g.5227113G>C beta nt -76 C>A - HBB_001956 - Hbvar-?, PubMed: Nagar R - - Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
-/- - c.-92C>G - r.(=) p.(=) - benign g.5248343G>C g.5227113G>C -42 C>G - HBB_001956 - IthaNet-2040, IthaNet-3060 - - SUMMARY record - - - 0 - IthaNet - Petros Kountouris
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