Full data view for gene HBA1

Information The variants shown are described using the NM_000558.3 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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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_2 c.-3416_271del - r.? p.? Parent #1 - pathogenic g.223383_227186del g.173384_177187del -α3.7 - HBA1_004001 - 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
+/. _1_2 c.-3416_271del - r.? p.? Parent #1 - pathogenic g.223383_227186del g.173384_177187del -α3.7 - HBA1_004001 - PubMed: He 2017, Journal: He 2017 - - Germline - 32/951 individuals - - - DNA SEQ-NG - - ? 28125089-? PubMed: He 2017, Journal: He 2017 double-blind, premarital hemoglobinopathy screening 951 individuals - - China Dai (Dehong, Xishuangbanna) - - - - 32 Baosheng Zhu
+/. _1_2 c.-3416_271del - r.? p.? Parent #1 - pathogenic g.223383_227186del g.173384_177187del -α3.7 - HBA1_004001 - 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
+/. _1_2 c.-3416_271del - r.? p.? Parent #1 - pathogenic g.223383_227186del g.173384_177187del -α3.7 - HBA1_004001 - 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
+/. _1_2 c.-3416_271del - r.? p.? Parent #1 - pathogenic g.223383_227186del g.173384_177187del -α3.7 - HBA1_004001 - PubMed: He 2017, Journal: He 2017 - - Germline - 6/951 individuals - - - DNA SEQ-NG - - ? 28125089-? PubMed: He 2017, Journal: He 2017 double-blind, premarital hemoglobinopathy screening 951 individuals - - China Dai (Dehong, Xishuangbanna) - - - - 6 Baosheng Zhu
+/. _1_2 c.-3416_271del - r.? p.? Parent #1 - pathogenic g.223383_227186del g.173384_177187del -α3.7 - HBA1_004001 - 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
+/. _1_2 c.-3416_271del - r.? p.? Parent #1 - pathogenic g.223383_227186del g.173384_177187del -α3.7 - HBA1_004001 - 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
+/. _1_2 c.-3416_271del - r.? p.? Parent #1 - pathogenic g.223383_227186del g.173384_177187del -α3.7 - HBA1_004001 - 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
+/. _1_2 c.-3416_271del - r.? p.? Parent #1 - pathogenic g.223383_227186del g.173384_177187del -α3.7 - HBA1_004001 - 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
+/. _1_2 c.-3416_271del - r.? p.? Both (homozygous) - pathogenic g.223383_227186del g.173384_177187del -α3.7 - HBA1_004001 - 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
+/. _1_2 c.-3416_271del - r.? p.? Both (homozygous) - pathogenic g.223383_227186del g.173384_177187del -α3.7 - HBA1_004001 - 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
+/. _1_2 c.-3416_271del - r.? p.? Both (homozygous) - pathogenic g.223383_227186del g.173384_177187del -α3.7 - HBA1_004001 - 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
+/. _1_2 c.-3416_271del - r.? p.? Parent #1 - pathogenic g.223383_227186del g.173384_177187del -α3.7 - HBA1_004001 - 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
+/. _1_2 c.-3416_271del - r.? p.? Parent #1 - pathogenic g.223383_227186del g.173384_177187del -α3.7 - HBA1_004001 - 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
+/. _1_2 c.-3416_271del - r.? p.? Parent #1 - pathogenic g.223383_227186del g.173384_177187del -α3.7 - HBA1_004001 - 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
+/. _1_2 c.-3416_271del - r.? p.? Parent #1 - pathogenic g.223383_227186del g.173384_177187del -α3.7 - HBA1_004001 - 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
+/. _1_2 c.-3416_271del - r.? p.? Parent #1 - pathogenic g.223383_227186del g.173384_177187del -α3.7 - HBA1_004001 - PubMed: He 2017, Journal: He 2017 - - Germline - 129/951 individuals - - - DNA SEQ-NG - - ? 28125089-? PubMed: He 2017, Journal: He 2017 double-blind, premarital hemoglobinopathy screening 951 individuals - - China Dai (Dehong, Xishuangbanna) - - - - 129 Baosheng Zhu
+/. _1_2 c.-3416_271del - r.? p.? Parent #1 - pathogenic g.223383_227186del g.173384_177187del -α3.7 - HBA1_004001 - 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
+/. _1_2 c.-3416_271del - r.? p.? Parent #1 - pathogenic g.223383_227186del g.173384_177187del -α3.7 - HBA1_004001 - 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
+/. _1_2 c.-3416_271del - r.? p.? Parent #1 - pathogenic g.223383_227186del g.173384_177187del -α3.7 - HBA1_004001 - PubMed: He 2017, Journal: He 2017 - - Germline - 3/951 individuals - - - DNA SEQ-NG - - ? 28125089-? PubMed: He 2017, Journal: He 2017 double-blind, premarital hemoglobinopathy screening 951 individuals - - China Dai (Dehong, Xishuangbanna) - - - - 3 Baosheng Zhu
+/. _1_2 c.-3416_271del - r.? p.? Parent #1 - pathogenic g.223383_227186del g.173384_177187del -α3.7 - HBA1_004001 - 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
+/. _1_2 c.-3416_271del - r.? p.? Both (homozygous) - pathogenic g.223383_227186del g.173384_177187del -α3.7 - HBA1_004001 - PubMed: He 2017, Journal: He 2017 - - Germline - 14/951 individuals - - - DNA SEQ-NG - - ? 28125089-? PubMed: He 2017, Journal: He 2017 double-blind, premarital hemoglobinopathy screening 951 individuals - - China Dai (Dehong, Xishuangbanna) - - - - 14 Baosheng Zhu
+/. _1_2 c.-3416_271del - r.? p.? Parent #1 - pathogenic g.223383_227186del g.173384_177187del -α3.7 - HBA1_004001 - 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
+/. _1_2 c.-3416_271del - r.? p.? Parent #2 - pathogenic g.223383_227186del g.173384_177187del -α3.7 - HBA1_004001 - 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
+/. _1_2 c.-3416_271del - r.? p.? Parent #2 - pathogenic g.223383_227186del g.173384_177187del -α3.7 - HBA1_004001 - PubMed: He 2017, Journal: He 2017 - - Germline - 8/951 individuals - - - DNA SEQ-NG - - ? 28125089-? PubMed: He 2017, Journal: He 2017 double-blind, premarital hemoglobinopathy screening 951 individuals - - China Dai (Dehong, Xishuangbanna) - - - - 8 Baosheng Zhu
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