Full data view for gene HBA2

Information The variants shown are described using the NM_000517.4 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
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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.427T>C - r.(?) p.(*143Glnext*31) Parent #1 - pathogenic g.223597T>C g.173598T>C αCS - HBA2_000463 - PubMed: He 2017, Journal: He 2017 - - Germline - 4/951 individuals - - - DNA SEQ-NG - - ? 28125089-? PubMed: He 2017, Journal: He 2017 double-blind, premarital hemoglobinopathy screening 951 individuals - - China Dai (Dehong, Xishuangbanna) - - - - 4 Baosheng Zhu
+/. 3 c.427T>C - r.(?) p.(*143Glnext*31) Parent #1 - pathogenic g.223597T>C g.173598T>C αCS - HBA2_000463 - PubMed: He 2017, Journal: He 2017 - - Germline - 2/951 individuals - - - DNA SEQ-NG - - ? 28125089-? PubMed: He 2017, Journal: He 2017 double-blind, premarital hemoglobinopathy screening 951 individuals - - China Dai (Dehong, Xishuangbanna) - - - - 2 Baosheng Zhu
+/. 3 c.427T>C - r.(?) p.(*143Glnext*31) Parent #1 - pathogenic g.223597T>C g.173598T>C αCS - HBA2_000463 - PubMed: He 2017, Journal: He 2017 - - Germline - 1/951 individuals - - - DNA SEQ-NG - - ? 28125089-? PubMed: He 2017, Journal: He 2017 double-blind, premarital hemoglobinopathy screening 951 individuals - - China Dai (Dehong, Xishuangbanna) - - - - 1 Baosheng Zhu
+/. 3 c.427T>C - r.(?) p.(*143Glnext*31) Parent #1 - pathogenic g.223597T>C g.173598T>C αCS - HBA2_000463 - PubMed: He 2017, Journal: He 2017 - - Germline - 15/951 individuals - - - DNA SEQ-NG - - ? 28125089-? PubMed: He 2017, Journal: He 2017 double-blind, premarital hemoglobinopathy screening 951 individuals - - China Dai (Dehong, Xishuangbanna) - - - - 15 Baosheng Zhu
+/. 3 c.427T>C - r.(?) p.(*143Glnext*31) Both (homozygous) - pathogenic g.223597T>C g.173598T>C αCS - HBA2_000463 - PubMed: He 2017, Journal: He 2017 - - Germline - 1/951 individuals - - - DNA SEQ-NG - - ? 28125089-? PubMed: He 2017, Journal: He 2017 double-blind, premarital hemoglobinopathy screening 951 individuals - - China Dai (Dehong, Xishuangbanna) - - - - 1 Baosheng Zhu
+/. 3 c.427T>C - r.(?) p.(*143Glnext*31) Parent #2 - pathogenic g.223597T>C g.173598T>C αCS - HBA2_000463 - PubMed: He 2017, Journal: He 2017 - - Germline - 1/951 individuals - - - DNA SEQ-NG - - ? 28125089-? PubMed: He 2017, Journal: He 2017 double-blind, premarital hemoglobinopathy screening 951 individuals - - China Dai (Dehong, Xishuangbanna) - - - - 1 Baosheng Zhu
+/. 3 c.427T>C - r.(?) p.(*143Glnext*31) Parent #2 - pathogenic g.223597T>C g.173598T>C αCS - HBA2_000463 - PubMed: He 2017, Journal: He 2017 - - Germline - 1/951 individuals - - - DNA SEQ-NG - - ? 28125089-? PubMed: He 2017, Journal: He 2017 double-blind, premarital hemoglobinopathy screening 951 individuals - - China Dai (Dehong, Xishuangbanna) - - - - 1 Baosheng Zhu
+/. - c.427T>C - r.(?) p.(Ter143GlnextTer31) Unknown - pathogenic g.223597T>C g.173598T>C HBA2(NM_000517.6):c.427T>C (p.*143Qext*31) - HBA2_000463 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.427T>C Hb Constant Spring (Hb CS) r.(?) p.(*143Glnext*31) Unknown - VUS g.223597T>C g.173598T>C - - HBA2_000463 - data from Globin Gene Server (HbVar-703), OMIM:var0001, PubMed: Thonglairoam, PubMed: Harteveld, PubMed: Smetanina, PubMed: Xu - rs41464951 Germline - - - - - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - - - - 1 HbVar - Belinda Giardine and Ross Hardison
+/. - c.427T>C - r.(?) p.(Ter143GlnextTer31) Parent #1 - pathogenic (recessive) g.223597T>C g.173598T>C - - HBA2_000463 - PubMed: Reiner 2022 - - Germline - 1/73755 controls - - - DNA SEQ, SEQ-NG - custom gene panel Healthy/Control - PubMed: Reiner 2022 carrier screening 73,755 controls - - United States - - - - - 1 Johan den Dunnen
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