Full data view for gene HBM

Information The variants shown are described using the NM_001003938.3 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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Effect     

Exon     

AscendingDNA change (cDNA)     

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     
./. - c.-24_*60{0} r.0 p.0 Unknown - VUS g.201620_232294del g.151621_182295del - - HBA1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.-24_*60{0} r.0 p.0 Unknown - VUS g.201620_232294del g.151621_182295del - - HBA1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.-24_*60{0} r.0 p.0 Unknown - VUS g.201620_232294del g.151621_182295del - - HBA1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.-24_*60{0} r.0 p.0 Parent #1 - pathogenic g.215401_234701del g.165402_184702del -αSEA - HBA1_004000 - 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
./. - c.-24_*60{0} r.0 p.0 Parent #1 - pathogenic g.215401_234701del g.165402_184702del -αSEA - HBA1_004000 - 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.-24_*60{0} r.0 p.0 Parent #1 - pathogenic g.215401_234701del g.165402_184702del -αSEA - HBA1_004000 - 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.-24_*60{0} r.0 p.0 Parent #1 - pathogenic g.215401_234701del g.165402_184702del -αSEA - HBA1_004000 - 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.-24_*60{0} r.0 p.0 Parent #1 - pathogenic g.215401_234701del g.165402_184702del -αSEA - HBA1_004000 - 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
./. - c.-24_*60{0} r.0 p.0 Parent #1 - pathogenic g.215401_234701del g.165402_184702del -αSEA - HBA1_004000 - 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.-24_*60{0} r.0 p.0 Parent #1 - pathogenic g.215401_234701del g.165402_184702del -αSEA - HBA1_004000 - 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.-24_*60{0} r.0 p.0 Parent #1 - pathogenic g.215401_234701del g.165402_184702del -αSEA - HBA1_004000 - 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
./. - c.-24_*60{0} r.0 p.0 Parent #1 - pathogenic g.215401_234701del g.165402_184702del -αSEA - HBA1_004000 - PubMed: He 2017, Journal: He 2017 - - Germline - 75/951 individuals - - - DNA SEQ-NG - - ? 28125089-? PubMed: He 2017, Journal: He 2017 double-blind, premarital hemoglobinopathy screening 951 individuals - - China Dai (Dehong, Xishuangbanna) - - - - 75 Baosheng Zhu
./. - c.-24_*60{0} r.0 p.0 Parent #1 - pathogenic g.215401_234701del g.165402_184702del -αSEA - HBA1_004000 - 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
./. - c.-24_*60{0} r.0 p.0 Parent #1 - pathogenic g.215401_234701del g.165402_184702del -αSEA - HBA1_004000 - 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.-24_*60{0} r.0 p.0 Parent #1 - pathogenic g.215401_234701del g.165402_184702del -αSEA - HBA1_004000 - 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_3_ c.-24_*60{0} r.0 p.0 Paternal (confirmed) - pathogenic (recessive) g.212078_229144del g.162079_179145del - - HBA1_004005 - PubMed: Soler 2024 - - Germline - - - - - DNA MLPA, PCRlr, SEQ - - thalalpa patient PubMed: Soler 2024 2-generation family, 1 affected, unaffected heterozygous parents F - Brazil white - - - - 1 Johan den Dunnen
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