Full data view for gene HBQ1

Information The variants shown are described using the NM_005331.4 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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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.-28866_*1187del r.? p.? Unknown - VUS g.201620_232294del g.151621_182295del - - HBA1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.-28866_*1187del r.? p.? Unknown - VUS g.201620_232294del g.151621_182295del - - HBA1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.-28866_*1187del r.? p.? Unknown - VUS g.201620_232294del g.151621_182295del - - HBA1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.-15085_*3594del 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.-15085_*3594del 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.-3794C>G r.(?) p.(=) Unknown - benign g.226692C>G - HBA1(NM_000558.5):c.-24C>G - HBA1_004006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-3559G>A r.(?) p.(=) Unknown - pathogenic g.226927G>A g.176928G>A HBA1(NM_000558.5):c.96-1G>A - HBA1_003001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3500G>A r.(?) p.(=) Unknown - likely benign g.226986G>A - HBA1(NM_000558.5):c.154G>A (p.(Gly52Ser), p.G52S) - HBA1_000230 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3500G>A r.(?) p.(=) Unknown - VUS g.226986G>A - HBA1(NM_000558.5):c.154G>A (p.(Gly52Ser), p.G52S) - HBA1_000230 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-3475G>A r.(?) p.(=) Unknown - likely pathogenic g.227011G>A - HBA1(NM_000558.5):c.179G>A (p.(Gly60Asp)) - HBA1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-3356A>T r.(?) p.(=) Unknown - pathogenic g.227130A>T - HBA1(NM_000558.5):c.298A>T (p.K100*) - HBA1_001817 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-3353G>A r.(?) p.(=) Unknown - likely pathogenic g.227133G>A - HBA1(NM_000558.5):c.300+1G>A - HBA1_004009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3233C>G r.(?) p.(=) Unknown - benign g.227253C>G g.177254C>G HBA1(NM_000558.5):c.301-29C>G - HBA1_003002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3228C>G r.(?) p.(=) Unknown - benign g.227258C>G g.177259C>G HBA1(NM_000558.5):c.301-24C>G - HBA1_003004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-3147C>T r.(?) p.(=) Unknown - pathogenic g.227339C>T - HBA1(NM_000558.5):c.358C>T (p.(Pro120Ser)) - HBA1_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3109T>C r.(?) p.(=) Unknown - likely benign g.227377T>C - HBA1(NM_000558.5):c.396T>C (p.S132=) - HBA1_004008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-15085_*3594del 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.-15085_*3594del 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.-15085_*3594del 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.239C>T r.(?) p.(Ala80Val) Unknown - likely benign g.230808C>T g.180809C>T HBQ1(NM_005331.4):c.239C>T (p.(Ala80Val)) - HBA1_003005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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