Full data view for gene HBB

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     

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     
+?/. 2 c.154C>T Hb Grenoble ? r.(?) p.(Pro52Ser) Parent #1 g.5247968G>A g.5226738G>A [154C>T;157G>A] - HBB_004078 - data from Globin Gene Server (HbVar-693), OMIM:var0408, PubMed: Lacombe C - - Germline - - - 0 - DNA SEQ, ? ?, screen APC gene (index patient), FAP-1, thal - Japan, Tokyo, Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science - - - (Japan) - - - no (pedigree) - 1 Stefan Aretz
?/. - c.154C>T Hb Grenoble VUS r.(?) p.(Pro52Ser) Unknown g.5247968G>A g.5226738G>A CD 51 CCT>TCT, CD 52 GAT>AAT, [154C>T;157G>A] - HBB_004078 β-chain variant IthaNet-972 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
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