All variants in the BCORL1 gene

Information The variants shown are described using the NM_021946.4 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. - c.301T>C r.(?) p.(Tyr101His) - likely benign g.129147049T>C g.130013073T>C BCORL1(NM_001184772.2):c.301T>C (p.Y101H), BCORL1(NM_021946.5):c.301T>C (p.Y101H) - BCORL1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.301T>C r.(?) p.(Tyr101His) - benign g.129147049T>C - BCORL1(NM_001184772.2):c.301T>C (p.Y101H), BCORL1(NM_021946.5):c.301T>C (p.Y101H) - BCORL1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
Legend   How to query