Full data view for gene HBB

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

30 entries on 1 page. Showing entries 1 - 30.
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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     
+/. 1i c.92+1G>T - r.spl p.(?) Parent #1 - pathogenic g.5248159C>A g.5226929C>A - - HBB_001138 - - - rs33971440 Germline - - - 0 - DNA SEQ - - Healthy/Control - - - - - Germany - - 0 - - 1 Andreas Laner
+/. 1i c.92+1G>T - r.spl p.? Unknown - pathogenic g.5248159C>A g.5226929C>A - - HBB_001138 - - - - Germline - - - 0 - DNA SEQ - - - - - Fam44853 - - (Netherlands) - - 0 - - 1 Kees Harteveld
+/. 1i c.92+1G>T - r.spl p.? Both (homozygous) - pathogenic g.5248159C>A g.5226929C>A - - HBB_001138 - - - - Germline - - - 0 - DNA SEQ - - - - - Fam45633 - - (Netherlands) - - 0 - - 1 Kees Harteveld
+/. 1i c.92+1G>T - r.spl p.? Unknown - pathogenic g.5248159C>A g.5226929C>A - - HBB_001138 - - - - Germline - - - 0 - DNA SEQ - - - - - Fam45633 - - (Netherlands) - - 0 - - 1 Kees Harteveld
+/. 1i c.92+1G>T - r.spl p.? Unknown - pathogenic g.5248159C>A g.5226929C>A - - HBB_001138 - - - - Germline - - - 0 - DNA SEQ - - - - - Fam45633 - - (Netherlands) - - 0 - - 1 Kees Harteveld
+/. 1i c.92+1G>T - r.spl p.? Unknown - pathogenic g.5248159C>A g.5226929C>A - - HBB_001138 - - - - Germline - - - 0 - DNA SEQ - - - - - Fam45633 - - (Netherlands) - - 0 - - 1 Kees Harteveld
+/. 1i c.92+1G>T - r.spl p.? Both (homozygous) - pathogenic g.5248159C>A g.5226929C>A - - HBB_001138 - - - - Germline - - - 0 - DNA SEQ - - - - - Fam46121 - - (Netherlands) - - 0 - - 1 Kees Harteveld
+/. 1i c.92+1G>T - r.spl p.? Unknown - pathogenic g.5248159C>A g.5226929C>A - - HBB_001138 - - - - Germline - - - 0 - DNA SEQ - - - - - Fam46998 - - (Netherlands) - - 0 - - 1 Kees Harteveld
+/. 1i c.92+1G>T - r.spl p.? Unknown - pathogenic g.5248159C>A g.5226929C>A - - HBB_001138 - - - - Germline - - - 0 - DNA SEQ - - - - - Fam47632 - - (Netherlands) - - 0 - - 1 Kees Harteveld
+/. 1i c.92+1G>T - r.spl p.? Unknown - pathogenic g.5248159C>A g.5226929C>A - - HBB_001138 - - - - Germline - - - 0 - DNA SEQ - - - - - Fam49190 - - (Netherlands) - - 0 - - 1 Kees Harteveld
+/. 1i c.92+1G>T - r.spl p.? Unknown - pathogenic g.5248159C>A g.5226929C>A - - HBB_001138 - - - - Germline - - - 0 - DNA SEQ - - - - - Fam62638 - - (Netherlands) - - 0 - - 1 Kees Harteveld
+/. 1i c.92+1G>T - r.spl p.? Unknown - pathogenic g.5248159C>A g.5226929C>A - - HBB_001138 - - - - Germline - - - 0 - DNA SEQ - - - - - Fam63516 - - (Netherlands) - - 0 - - 1 Kees Harteveld
+/. 1i c.92+1G>T - r.spl p.? Unknown - pathogenic g.5248159C>A g.5226929C>A - - HBB_001138 - - - - Germline - - - 0 - DNA SEQ - - - - - Fam74759 - - (Netherlands) - - 0 - - 1 Kees Harteveld
+/. 1i c.92+1G>T - r.spl p.? Unknown - pathogenic g.5248159C>A g.5226929C>A - - HBB_001138 - - - - Germline - - - 0 - DNA SEQ - - - - - Fam74759 - - (Netherlands) - - 0 - - 1 Kees Harteveld
+/. 1i c.92+1G>T - r.spl p.? Unknown - pathogenic g.5248159C>A g.5226929C>A - - HBB_001138 - - - - Germline - - - 0 - DNA SEQ - - - - - Fam75236 - - (Netherlands) - - 0 - - 1 Kees Harteveld
+/. 1i c.92+1G>T - r.spl p.? Unknown - pathogenic g.5248159C>A g.5226929C>A - - HBB_001138 - - - - Germline - - - 0 - DNA SEQ - - - - - Fam78891 - - (Netherlands) - - 0 - - 1 Kees Harteveld
+/. 1i c.92+1G>T - r.spl p.? Unknown - pathogenic g.5248159C>A g.5226929C>A - - HBB_001138 - - - - Germline - - - 0 - DNA SEQ - - - - - Fam79675 - - (Netherlands) - - 0 - - 1 Kees Harteveld
+/. 1i c.92+1G>T - r.spl p.? Unknown - pathogenic g.5248159C>A g.5226929C>A - - HBB_001138 - - - - Germline - - - 0 - DNA SEQ - - - - - Fam82709 - - (Netherlands) - - 0 - - 1 Kees Harteveld
+/. 1i c.92+1G>T - r.spl p.? Both (homozygous) - pathogenic g.5248159C>A g.5226929C>A - - HBB_001138 - - - - Germline - - - 0 - DNA SEQ - - - - - Fam87868 - - (Netherlands) - - 0 - - 1 Kees Harteveld
+/. 1i c.92+1G>T - r.spl p.? Unknown - pathogenic g.5248159C>A g.5226929C>A - - HBB_001138 - - - - Germline - - - 0 - DNA SEQ - - - - - Fam92276 - - (Netherlands) - - 0 - - 1 Kees Harteveld
+/. 1i c.92+1G>T - r.spl p.? Unknown - pathogenic g.5248159C>A g.5226929C>A - - HBB_001138 - - - - Germline - - - 0 - DNA SEQ - - - - - Fam92276 - - (Netherlands) - - 0 - - 1 Kees Harteveld
+/. 1i c.92+1G>T - r.spl p.? Unknown - pathogenic g.5248159C>A g.5226929C>A - - HBB_001138 - - - - Germline - - - 0 - DNA SEQ - - - - - Fam96104 - - (Netherlands) - - 0 - - 1 Kees Harteveld
+/. 1i c.92+1G>T - r.spl p.? Unknown - pathogenic g.5248159C>A g.5226929C>A - - HBB_001138 - - - - Germline - - - 0 - DNA SEQ - - - - - Fam96104 - - (Netherlands) - - 0 - - 1 Kees Harteveld
+/. 1i c.92+1G>T - r.spl p.? Unknown - pathogenic g.5248159C>A g.5226929C>A - - HBB_001138 - - - - Germline - - - 0 - DNA SEQ - - - - - Fam103197 - - (Netherlands) - - 0 - - 1 Kees Harteveld
+/. 1i c.92+1G>T - r.spl p.? Unknown - pathogenic g.5248159C>A g.5226929C>A - - HBB_001138 - - - - Germline - - - 0 - DNA SEQ - - - - - Fam103820 - - (Netherlands) - - 0 - - 1 Kees Harteveld
+/. 1i c.92+1G>T - r.spl p.? Unknown - pathogenic g.5248159C>A g.5226929C>A - - HBB_001138 - - - - Germline - - - 0 - DNA SEQ - - - - - Fam104605 - - (Netherlands) - - 0 - - 1 Kees Harteveld
+/. 1i c.92+1G>T - r.spl? p.? Parent #1 - pathogenic g.5248159C>A g.5226929C>A IVS-I-1 (G>T) - HBB_001138 - 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
+?/. 1i c.92+1G>T - r.spl p.? Unknown - VUS g.5248159C>A g.5226929C>A IVS-I-1 (G->T); AG^GTTGGT->AGTTTGGT beta0 - HBB_001138 - data from Globin Gene Server (HbVar-818), OMIM:var0347, PubMed: Kazazian HH Jr - rs33971440 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+/. - c.92+1G>T - r.spl p.? Unknown - pathogenic g.5248159C>A g.5226929C>A IVS I-1 (G>T) - HBB_001138 β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-102 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.92+1G>T - r.spl? p.? Parent #1 - likely pathogenic g.5248159C>A g.5226929C>A - - HBB_001138 10 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs33971440 Germline - 10/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 10 Mohammed Faruq
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