All variants in the PEX11B gene

Information The variants shown are described using the NM_003846.2 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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.16C>T r.(?) p.(Arg6Cys) - VUS g.145516416C>T g.145918673G>A PEX11B(NM_001184795.1):c.-228C>T (p.(=)) - PEX11B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+/. - c.64C>T r.(?) p.(Gln22Ter) - pathogenic g.145517280C>T g.145917809G>A - - PEX11B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.137G>A r.(?) p.(Arg46Gln) - likely benign g.145517353G>A g.145917736C>T PEX11B(NM_003846.2):c.137G>A (p.R46Q) - PEX11B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.148_149del r.(?) p.(Ser50Profs*13) ACMG likely pathogenic g.145517364_145517365del g.145917724_145917725del - - PEX11B_000001 - Trujillano et al., submitted - - Germline - - - 0 - Daniel Trujillano
-?/. - c.238G>A r.(?) p.(Val80Ile) - likely benign g.145518136G>A g.145916953C>T PEX11B(NM_003846.2):c.238G>A (p.V80I) - PEX11B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.271C>G r.(?) p.(Leu91Val) - VUS g.145518169C>G g.145916920G>C PEX11B(NM_001184795.1):c.229C>G (p.(Leu77Val)) - PEX11B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.*5361C>T r.(=) p.(=) - likely benign g.145528280C>T g.145906796G>A ITGA10(NM_003637.3):c.301C>T (p.(His101Tyr)) - ITGA10_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
Legend   How to query