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     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 1 c.20A>C - pathogenic r.(?) p.(Glu7Ala) Unknown g.5248232T>G g.5227002T>G - - HBB_000680 - - - - Germline - - - 0 - DNA SEQ - - - - - Fam75313 - - (Netherlands) - - 0 - - 1 Kees Harteveld
+/. 1 c.20A>C - pathogenic r.(?) p.(Glu7Ala) Unknown g.5248232T>G g.5227002T>G - - HBB_000680 - - - - Germline - - - 0 - DNA SEQ - - - - - Fam79222 - - (Netherlands) - - 0 - - 1 Kees Harteveld
+/. 1 c.20A>C - pathogenic r.(?) p.(Glu7Ala) Unknown g.5248232T>G g.5227002T>G - - HBB_000680 - - - - Germline - - - 0 - DNA SEQ - - - - - Fam80331 - - (Netherlands) - - 0 - - 1 Kees Harteveld
+/. 1 c.20A>C - pathogenic r.(?) p.(Glu7Ala) Unknown g.5248232T>G g.5227002T>G - - HBB_000680 - - - - Germline - - - 0 - DNA SEQ - - - - - Fam83579 - - (Netherlands) - - 0 - - 1 Kees Harteveld
+?/. 1 c.20A>C Hb G-Makassar ? r.(?) p.(Glu7Ala) Unknown g.5248232T>G g.5227002T>G - - HBB_000680 - data from Globin Gene Server (HbVar-228), OMIM:var0085, ExPASy_002862, PubMed: Viprakasit, PubMed: Blackwell - rs334 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
?/. - c.20A>C Hb G-Makassar VUS r.(?) p.(Glu7Ala) Unknown g.5248232T>G g.5227002T>G CD 6 GAG>GCG - HBB_000680 β-chain variant IthaNet-826 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
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