All transcript variants in gene COX6B1

Information The variants shown are described using the NM_001863.4 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
Legend  

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.-5060C>T r.(?) p.(=) - likely benign g.36134257C>T g.35643355C>T ETV2(NM_014209.2):c.317C>T (p.(Ser106Leu)) - COX6B1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.135C>T r.(?) p.(Thr45=) - likely benign g.36145501C>T g.35654599C>T COX6B1(NM_001863.5):c.135C>T (p.T45=) - COX6B1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.220G>T r.(?) p.(Asp74Tyr) - VUS g.36149508G>T g.35658606G>T COX6B1(NM_001863.5):c.220G>T (p.D74Y) - COX6B1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
Legend