All variants in the HBB gene

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

2 entries on 1 page. Showing entries 1 - 2.
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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     
+?/. 2 c.243C>R Hb G-Szuhu r.(?) p.Asn81Lys - VUS g.5247879G>Y g.5226649G>Y - - HBB_000853 - data from Globin Gene Server (HbVar-402), OMIM:var0087, ExPASy_002984, PubMed: Schilliro, PubMed: Kaufman, PubMed: Blackwell - rs35890380 Germline - - - 0 - HbVar - Belinda Giardine and Ross Hardison
?/. - c.243C>R Hb G-Szuhu r.(?) p.(Asn81Lys) - VUS g.5247879G>Y g.5226649G>Y CD 80 AAC>AAA or AAG (Hb Gifu) - HBB_000853 β-chain variant IthaNet-1068 - - SUMMARY record - - - 0 - IthaNet - Petros Kountouris
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