Full data view for gene BCL6

Information The variants shown are described using the NM_001130845.1 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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.492G>T r.(?) p.(Glu164Asp) Parent #1 - VUS g.187447701C>A g.187729913C>A - - BCL6_000003 no interpretation available; 22 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61752081 Germline - 22/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 22 Mohammed Faruq
-?/. - c.497A>C r.(?) p.(Asn166Thr) Both (homozygous) - likely benign g.187447696T>G - - - BCL6_000004 - PubMed: Sirmaci 2010 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES 3MC Fam1Pat1 PubMed: Sirmaci 2010 4-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F yes Turkey - - 0 - - 2 Johan den Dunnen
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