Full data view for gene PEX11B

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

12 entries on 1 page. Showing entries 1 - 12.
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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.(?_-1)_(374+1_375-1)del r.0? p.0? Parent #1 - likely pathogenic g.(?_145516400)_(145518273_145522513)del g.(?_145918689)_(145912567_145916816)del g.145516396_145518277del - PEX11B_000009 - PubMed: Ellingford 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CTRCT 15011450 PubMed: Ellingford 2017 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.16C>T r.(?) p.(Arg6Cys) Unknown - VUS g.145516416C>T g.145918673G>A PEX11B(NM_001184795.1):c.-228C>T (p.(=)) - PEX11B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.56+198_56+199del r.(=) p.(=) Unknown - pathogenic g.145516654_145516655del - PEX11B(NM_001184795.1):c.11_12delTG (p.L4Qfs*22) - PEX11B_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.64C>T r.(?) p.(Gln22Ter) Unknown - pathogenic g.145517280C>T g.145917809G>A - - PEX11B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.64C>T r.(?) p.(Gln22Ter) Both (homozygous) - pathogenic (recessive) g.145517280C>T g.145917809G>A - - PEX11B_000004 - PubMed: Ebberink 2012 - - Germline - - - - - DNA SEQ, SEQ-NG - 17-gene panel PBD patient;Pat4 PubMed: Ebberink 2012, PubMed: Berendse 2016 - M no Netherlands white - - - - 1 Johan den Dunnen
-?/. - c.137G>A r.(?) p.(Arg46Gln) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.148_149del r.(?) p.(Ser50Profs*13) Both (homozygous) ACMG likely pathogenic g.145517364_145517365del g.145917724_145917725del - - PEX11B_000001 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - PBD14B;PEX14B - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
-?/. - c.238G>A r.(?) p.(Val80Ile) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.271C>G r.(?) p.(Leu91Val) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.524del r.(?) p.(Gly175AspfsTer14) Both (homozygous) ACMG pathogenic (recessive) g.145522663del g.145912421del - - PEX11B_000008 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M027 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents - yes - Kurd - - - - 2 Johan den Dunnen
?/. - c.766C>T r.(?) p.(Arg256*) Unknown - VUS g.145522905C>T - - - ITGA10_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5361C>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
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