Full data view for gene CYP2B6

Information The variants shown are described using the NM_000767.4 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

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     

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Consanguinity     

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VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 5 c.785A>G r.(?) p.(Lys262Arg) CYP2B6*4/4A Parent #1 - likely pathogenic g.41515263A>G g.41009358A>G - - CYP2B6_000040 reference allele CYP2B6*4/4A; increased activity - - - Germline - - - - - DNA SEQ - - - - reference haplotype - - - - (not applicable) - - - - - 1 Johan den Dunnen
./. 5 c.785A>G r.(?) p.(Lys262Arg) CYP2B6*4B Parent #1 - - g.41515263A>G g.41009358A>G - - CYP2B6_000040 reference allele CYP2B6*4B - - - Germline - - - - - DNA SEQ - - - - reference haplotype - - - - (not applicable) - - - - - 1 Johan den Dunnen
./. 5 c.785A>G r.(?) p.(Lys262Arg) CYP2B6*4C Parent #1 - - g.41515263A>G g.41009358A>G - - CYP2B6_000040 reference allele CYP2B6*4C - - - Germline - - - - - DNA SEQ - - DMBp - reference haplotype - - - - - - - - - 1 Johan den Dunnen
./. 5 c.785A>G r.(=) p.(Lys262Arg) CYP2B6*6/6A Parent #1 - - g.41515263A>G g.41009358A>G - - CYP2B6_000040 reference allele CYP2B6*6/6A - - - Germline - - - - - DNA SEQ - - - - reference haplotype - - - - - - - - - 1 Johan den Dunnen
./. 5 c.785A>G r.(=) p.(Lys262Arg) CYP2B6*7/7A Parent #1 - - g.41515263A>G g.41009358A>G - - CYP2B6_000040 reference allele CYP2B6*7/7A - - - Germline - - - - - DNA SEQ - - - - reference haplotype - - - - - - - - - 1 Johan den Dunnen
./. 5 c.785A>G r.(=) p.(Lys262Arg) CYP2B6*13/13A Parent #1 - - g.41515263A>G g.41009358A>G - - CYP2B6_000040 reference allele CYP2B6*13/13A - - - Germline - - - - - DNA SEQ - - - - reference haplotype - - - - - - - - - 1 Johan den Dunnen
+/. 5 c.785A>G r.(?) p.(Lys262Arg) CYP2B6*4D Parent #1 - pathogenic g.41515263A>G g.41009358A>G 18053A>G - CYP2B6_000040 reference allele CYP2B6*4D - - - Germline - - - - - DNA SEQ - - - - reference haplotype - - - - - - - - - 1 Johan den Dunnen
-/. - c.785A>G r.(?) p.(Lys262Arg) - Unknown - benign g.41515263A>G g.41009358A>G CYP2B6(NM_000767.5):c.785A>G (p.K262R) - CYP2B6_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.785A>G r.(?) p.(Lys262Arg) - Unknown - benign g.41515263A>G g.41009358A>G CYP2B6(NM_000767.5):c.785A>G (p.K262R) - CYP2B6_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.785A>G r.(?) p.(Lys262Arg) CYP2B6*6B Parent #1 - pathogenic g.41515263A>G g.41009358A>G 18053A>G - CYP2B6_000040 reference allele CYP2B6*6B - - rs2279343 Germline - - - - - DNA SEQ - - DMBp - reference haplotype - - - - - - - - - 1 Johan den Dunnen
+/. 5 c.785A>G r.(?) p.(Lys262Arg) CYP2B6*6C Parent #1 - pathogenic g.41515263A>G g.41009358A>G 18053A>G - CYP2B6_000040 reference allele CYP2B6*6C - - rs2279343 Germline - - - - - DNA SEQ - - DMBp - reference haplotype - - - - - - - - - 1 Johan den Dunnen
+/. 5 c.785A>G r.(?) p.(Lys262Arg) CYP2B6*7B Parent #1 - pathogenic g.41515263A>G g.41009358A>G 18053A>G - CYP2B6_000040 reference allele CYP2B6*7B - - rs2279343 Germline - - - - - DNA SEQ - - DMBp - reference haplotype - - - - - - - - - 1 Johan den Dunnen
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