Full data view for gene PEX16

This database is one of the dbPEX gene variant databases.
Information The variants shown are described using the transcript reference sequence.

39 entries on 1 page. Showing entries 1 - 39.
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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.-5192G>C r.(?) p.(=) Unknown - likely benign g.45944554C>G g.45923003C>G GYLTL1B(NM_152312.3):c.121C>G (p.(Arg41Gly)) - GYLTL1B_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.43G>A r.(?) p.(Val15Met) Unknown - VUS g.45939320C>T g.45917769C>T PEX16(NM_004813.3):c.43G>A (p.V15M) - GYLTL1B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.303C>T r.(?) p.(Ala101=) Unknown - benign g.45937310G>A g.45915759G>A PEX16(NM_004813.3):c.303C>T (p.A101=) - PEX16_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.307G>A r.(?) p.(Val103Met) Unknown - benign g.45937306C>T g.45915755C>T PEX16(NM_004813.3):c.307G>A (p.V103M) - PEX16_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.307G>A r.(?) p.(Val103Met) Parent #1 - benign g.45937306C>T g.45915755C>T - - PEX16_000008 118 heterozygous; Clinindb (India) Faruq 2020, submtted - rs11553094 Germline - 118/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 118 Mohammed Faruq
-/. - c.307G>A r.(?) p.(Val103Met) Both (homozygous) - benign g.45937306C>T g.45915755C>T - - PEX16_000008 2 homozygous; Clinindb (India) Faruq 2020, submtted - rs11553094 Germline - 2/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, subitted analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
-/. - c.346= r.(=) p.(Ile116=) Unknown - benign g.45937267C>T g.45915716C>T PEX16(NM_004813.3):c.346G>A (p.V116I) - PEX16_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.346= r.(=) p.(Ile116=) Unknown - benign g.45937267C>T g.45915716C>T PEX16(NM_004813.3):c.346G>A (p.V116I) - PEX16_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.359+7dup r.(=) p.(=) Unknown - likely benign g.45937248dup g.45915697dup PEX16(NM_004813.2):c.359+7dupT (p.(=)) - PEX16_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.460+1dup r.spl p.? Both (homozygous) - pathogenic (recessive) g.45937018dup - 460+2insG - PEX16_000021 - PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2011 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.460+5G>A r.360_460del p.Ala121fs Both (homozygous) - pathogenic (recessive) g.45937014C>T - - - PEX16_000003 - PubMed: Shaheen 2010 - - Germline yes - - 0 - DNA, RNA RT-PCR, SEQ - - PBD Pat07 PubMed: Shaheen 2010 family, 1 affected, 4 deceased siblings had similar phenotype M - Saudi Arabia - 00y08m 0 - - 1 Nancy Braverman
+/. - c.526C>T r.(?) p.(Arg176Ter) Unknown - pathogenic g.45936170G>A g.45914619G>A PEX16(NM_004813.3):c.526C>T (p.R176*) - PEX16_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.526C>T r.526c>u p.Arg176* Both (homozygous) - pathogenic (recessive) g.45936170G>A - - - PEX16_000001 - PubMed: Honsho 1998, PubMed: South 1999 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD PBDD-01 PubMed: Honsho 1998, PubMed: South 1999 - - - Japan - - 0 - - 1 Nancy Braverman
?/. - c.541+5G>A r.spl? p.? Unknown - VUS g.45936150C>T g.45914599C>T PEX16(NM_004813.3):c.541+5G>A - PEX16_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.542-16C>T r.(=) p.(=) Unknown - benign g.45936035G>A g.45914484G>A PEX16(NM_004813.3):c.542-16C>T - PEX16_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.542-16C>T r.(=) p.(=) Unknown - benign g.45936035G>A g.45914484G>A PEX16(NM_004813.3):c.542-16C>T - PEX16_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.753_755del r.(?) p.(Val252del) Both (homozygous) - pathogenic (recessive) g.45935694_45935696del - - - PEX16_000018 - PubMed: Ebberink 2010 - - Germline - - - 0 - DNA SEQ - - PBD Pat3/FJGG PubMed: Ebberink 2010, PubMed: Pineda 1999 - M - Spain - - 0 - - 1 Johan den Dunnen
-?/. - c.760G>C r.(?) p.(Val254Leu) Unknown - likely benign g.45935689C>G g.45914138C>G PEX16(NM_004813.3):c.760G>C (p.V254L) - PEX16_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.812G>A r.(?) p.(Arg271Gln) Unknown - VUS g.45935445C>T - PEX16(NM_004813.3):c.812G>A (p.R271Q) - PEX16_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.830G>A r.(?) p.(Arg277Gln) Unknown - VUS g.45935427C>T g.45913876C>T - - PEX16_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.865C>A r.(?) p.(Pro289Thr) Both (homozygous) - pathogenic (recessive) g.45935392G>T - - - PEX16_000019 - PubMed: Ebberink 2010 - - Germline - - - 0 - DNA SEQ - - retinal disease Pat4 PubMed: Ebberink 2010 - - - - - - 0 - - 1 Johan den Dunnen
-/. - c.873T>C r.(?) p.(Tyr291=) Unknown - benign g.45935384A>G g.45913833A>G PEX16(NM_004813.3):c.873T>C (p.Y291=) - PEX16_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.873T>C r.(?) p.(Tyr291=) Unknown - benign g.45935384A>G g.45913833A>G PEX16(NM_004813.3):c.873T>C (p.Y291=) - PEX16_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.877C>T r.(?) p.(Arg293Cys) Unknown - VUS g.45935380G>A g.45913829G>A PEX16(NM_004813.3):c.877C>T (p.R293C) - PEX16_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.921C>T r.(?) p.(Ala307=) Unknown - likely benign g.45932480G>A - PEX16(NM_057174.2):c.921C>T (p.A307=) - C11orf94_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.952+2T>C r.888_952del p.Glu296fs Both (homozygous) - pathogenic (recessive) g.45932447A>G - - - PEX16_000002 - PubMed: Shimozawa 2002 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD GM06231/D-01 PubMed: Shimozawa 2002 - - - - - - 0 - - 1 Nancy Braverman
+/. - c.952+2T>C r.888_952del p.Glu296fs Both (homozygous) - pathogenic (recessive) g.45932447A>G - - - PEX16_000002 - PubMed: Shimozawa 2002 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD D-02 PubMed: Shimozawa 2002 - - - - - - 0 - - 1 Nancy Braverman
+/. - c.952+2T>C r.888_952del p.Glu296fs Both (homozygous) - pathogenic (recessive) g.45932447A>G - - - PEX16_000002 - PubMed: Shimozawa 2002 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD D-03 PubMed: Shimozawa 2002 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.952+118_956del r.? p.? Both (homozygous) - pathogenic (recessive) g.45931725_45932331del - NM_004813.2:c.952+118_1011+80del - PEX16_000016 - PubMed: Ebberink 2010 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD Pat6 PubMed: Ebberink 2010 - F yes India - - 0 - - 1 Nancy Braverman
+/. - c.953-104del r.(?) p.(=) Both (homozygous) - pathogenic (recessive) g.45931832del - NM_0004813.2:c.984delG - PEX16_000017 - PubMed: Ebberink 2010 - - Germline yes - - 0 - DNA SEQ - - PBD Pat1 PubMed: Ebberink 2010 2-generation family, 2 affected (F, M) F yes Turkey - - 0 - - 2 Johan den Dunnen
+/. - c.953-104del r.(?) p.(=) Both (homozygous) - pathogenic (recessive) g.45931832del - - - PEX16_000017 - PubMed: Ebberink 2010 - - Germline yes - - 0 - DNA SEQ - - PBD Pat2 PubMed: Ebberink 2010 brother M yes Turkey - - 0 - - 1 Johan den Dunnen
+/. - c.953-96A>G r.(?) p.(=) Both (homozygous) - pathogenic (recessive) g.45931824T>C - - - PEX16_000020 - PubMed: Ebberink 2010 - - Germline - - - 0 - DNA SEQ - - retinal disease Pat5 PubMed: Ebberink 2010 - F - - - - 0 - - 1 Johan den Dunnen
-/. - c.953-72C>A r.(=) p.(=) Unknown - benign g.45931800G>T g.45910249G>T PEX16(NM_004813.3):c.*5C>A - C11orf94_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.953-12T>C r.(=) p.(=) Unknown - benign g.45931740A>G g.45910189A>G PEX16(NM_004813.3):c.*65T>C - C11orf94_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.953-7C>G r.(=) p.(=) Unknown - VUS g.45931735G>C g.45910184G>C PEX16(NM_004813.2):c.*70C>G (p.(=)) - C11orf94_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1034A>C r.(?) p.(His345Pro) Unknown - benign g.45931647T>G g.45910096T>G PEX16(NM_057174.2):c.1034A>C (p.H345P) - C11orf94_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1035C>T r.(?) p.(His345=) Unknown - likely benign g.45931646G>A g.45910095G>A PEX16(NM_057174.2):c.1035C>T (p.H345=) - C11orf94_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1035C>T r.(?) p.(His345=) Unknown - likely benign g.45931646G>A g.45910095G>A PEX16(NM_057174.2):c.1035C>T (p.H345=) - C11orf94_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*10C>A r.(=) p.(=) Unknown - likely benign g.45931630G>T g.45910079G>T PEX16(NM_004813.3):c.*175C>A - C11orf94_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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