Full data view for gene HBB

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

9 entries on 1 page. Showing entries 1 - 9.
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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     
+/. 3 c.410G>A - r.(?) p.(Gly137Asp) Unknown - pathogenic g.5246862C>T g.5225632C>T - - HBB_000999 - - - - Germline - - - 0 - DNA SEQ - - - - - Fam43216 - - (Netherlands) - - 0 - - 1 Kees Harteveld
+/. 3 c.410G>A - r.(?) p.(Gly137Asp) Unknown - pathogenic g.5246862C>T g.5225632C>T - - HBB_000999 - - - - Germline - - - 0 - DNA SEQ - - - - - Fam66736 - - (Netherlands) - - 0 - - 1 Kees Harteveld
+/. 3 c.410G>A - r.(?) p.(Gly137Asp) Unknown - pathogenic g.5246862C>T g.5225632C>T - - HBB_000999 - - - - Germline - - - 0 - DNA SEQ - - - - - Fam67170 - - (Netherlands) - - 0 - - 1 Kees Harteveld
+/. 3 c.410G>A - r.(?) p.(Gly137Asp) Unknown - pathogenic g.5246862C>T g.5225632C>T - - HBB_000999 - - - - Germline - - - 0 - DNA SEQ - - - - - Fam84410 - - (Netherlands) - - 0 - - 1 Kees Harteveld
+/. 3 c.410G>A - r.(?) p.(Gly137Asp) Unknown - pathogenic g.5246862C>T g.5225632C>T - - HBB_000999 - - - - Germline - - - 0 - DNA SEQ - - - - - Fam90970 - - (Netherlands) - - 0 - - 1 Kees Harteveld
+/. 3 c.410G>A - r.(?) p.(Gly137Asp) Parent #1 - pathogenic g.5246862C>T g.5225632C>T Hb Hope - HBB_000999 - PubMed: He 2017, Journal: He 2017 - - Germline - 1/951 individuals - 0 - DNA SEQ-NG - - ? 28125089-? PubMed: He 2017, Journal: He 2017 double-blind, premarital hemoglobinopathy screening 951 individuals - - China Dai (Dehong, Xishuangbanna) - 0 - - 1 Baosheng Zhu
+/. 3 c.410G>A - r.(?) p.(Gly137Asp) Parent #1 - pathogenic g.5246862C>T g.5225632C>T Hb Hope - HBB_000999 - PubMed: He 2017, Journal: He 2017 - - Germline - 1/951 individuals - 0 - DNA SEQ-NG - - ? 28125089-? PubMed: He 2017, Journal: He 2017 double-blind, premarital hemoglobinopathy screening 951 individuals - - China Dai (Dehong, Xishuangbanna) - 0 - - 1 Baosheng Zhu
+?/. 3 c.410G>A Hb Hope r.(?) p.(Gly137Asp) Unknown - VUS g.5246862C>T g.5225632C>T - - HBB_000999 - data from Globin Gene Server (HbVar-548), OMIM:var0112, ExPASy_003075, PubMed: Ingle, PubMed: Rahbar, PubMed: Pillers, PubMed: Martinez - rs33949486 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
?/. - c.410G>A Hb Hope r.(?) p.(Gly137Asp) Unknown - VUS g.5246862C>T g.5225632C>T CD 136 GGT>GAT - HBB_000999 β-chain variant IthaNet-1272 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
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