Full data view for gene HBB

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

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. 1 c.3G>A - r.(?) p.0? Parent #1 - likely pathogenic g.5248249C>T g.5227019C>T Met1? - HBB_001100 - - - rs33930702 Germline - - - 0 - DNA SEQ - - Healthy/Control - - - - - Germany Iranian - 0 - - 1 Andreas Laner
+?/. 1 c.3G>A - r.(?) p.0? Unknown - VUS g.5248249C>T g.5227019C>T ATG->ATA beta, Met1Ile - HBB_001100 - data from Globin Gene Server (HbVar-778), OMIM:var0430, PubMed: Landin, PubMed: Saba - rs33930702 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+/. - c.3G>A - r.(?) p.0? Unknown - pathogenic g.5248249C>T g.5227019C>T Init CD ATG>ATA - HBB_001100 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-48 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
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