Full data view for gene HBB

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

5 entries on 1 page. Showing entries 1 - 5.
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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.397A>C - r.(?) p.(Lys133Gln) Unknown - pathogenic g.5246875T>G g.5225645T>G - - HBB_000991 - - - - Germline - - - 0 - DNA SEQ - - - - - Fam88215 - - (Netherlands) - - 0 - - 1 Kees Harteveld
+/. 3 c.397A>C - r.(?) p.(Lys133Gln) Unknown - pathogenic g.5246875T>G g.5225645T>G - - HBB_000991 - - - - Germline - - - 0 - DNA SEQ - - - - - Fam107508 - - (Netherlands) - - 0 - - 1 Kees Harteveld
+?/. 3 c.397A>C Hb K-Woolwich r.(?) p.(Lys133Gln) Unknown - VUS g.5246875T>G g.5225645T>G - - HBB_000991 - data from Globin Gene Server (HbVar-540), OMIM:var0143, ExPASy_003070, PubMed: Cabannes, PubMed: Ringelhann - rs33953406 Germline - - - 0 - DNA ? - - thal - data from the Globin Gene Server (HbVar) - - - - - - 0 - - 1 HbVar - Belinda Giardine and Ross Hardison
+/. - c.397A>C Hb K Woolwich r.(?) p.(Lys133Gln) Unknown - pathogenic g.5246875T>G g.5225645T>G CD 132 AAA>CAA [Lys>Gln] - HBB_000991 β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis IthaNet-1257 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.399A>C - r.(?) p.(Lys133Asn) Unknown - VUS g.5246875T>G g.5225645T>G CD 6 GAG>GTG, [20A>T;399A>C] - HBB_000991 β-chain variant Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. IthaNet-814 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
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