Full data view for gene PEX19

This database is one of the dbPEX gene variant databases.
Information The variants shown are described using the NM_002857.3 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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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.-10668A>C r.(?) p.(=) Unknown - likely benign g.160265582T>G g.160295792T>G COPA(NM_001098398.2):c.2447A>C (p.N816T) - COPA_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-9701A>T r.(?) p.(=) Unknown - likely benign g.160264615T>A g.160294825T>A COPA(NM_001098398.2):c.2536A>T (p.I846F) - COPA_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-9679G>A r.(?) p.(=) Unknown - VUS g.160264593C>T g.160294803C>T COPA(NM_001098398.2):c.2558G>A (p.G853D) - COPA_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-9424G>T r.(?) p.(=) Unknown - VUS g.160264338C>A g.160294548C>A COPA(NM_001098398.2):c.2639G>T (p.G880V) - COPA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-9366T>G r.(?) p.(=) Unknown - likely benign g.160264280A>C g.160294490A>C COPA(NM_001098398.2):c.2697T>G (p.P899=) - COPA_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-8255G>A r.(?) p.(=) Unknown - likely benign g.160263169C>T - COPA(NM_001098398.2):c.2781+7G>A - COPA_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-7416A>C r.(?) p.(=) Unknown - likely benign g.160262330T>G g.160292540T>G COPA(NM_001098398.2):c.2931A>C (p.T977=) - COPA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-7070G>A r.(?) p.(=) Unknown - VUS g.160261984C>T g.160292194C>T COPA(NM_001098398.2):c.2992G>A (p.D998N) - COPA_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-6872C>T r.(?) p.(=) Unknown - likely benign g.160261786G>A g.160291996G>A COPA(NM_001098398.2):c.3174+16C>T - COPA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-6758C>T r.(?) p.(=) Unknown - likely benign g.160261672G>A - COPA(NM_001098398.2):c.3222C>T (p.S1074=) - COPA_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-6705G>T r.(?) p.(=) Unknown - VUS g.160261619C>A - COPA(NM_004371.4):c.3248G>T (p.R1083L) - COPA_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-6704C>T r.(?) p.(=) Unknown - likely benign g.160261618G>A - COPA(NM_001098398.2):c.3276C>T (p.R1092=) - COPA_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5550C>T r.(?) p.(=) Unknown - likely benign g.160260464G>A - COPA(NM_001098398.2):c.3460C>T (p.L1154=) - COPA_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5500C>T r.(?) p.(=) Unknown - likely benign g.160260414G>A - COPA(NM_004371.4):c.3483C>T (p.D1161=) - COPA_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5353C>A r.(?) p.(=) Unknown - likely benign g.160260267G>T g.160290477G>T COPA(NM_001098398.2):c.3642+15C>A - COPA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.181-5C>T r.spl? p.? Unknown - likely benign g.160252904G>A g.160283114G>A PEX19(NM_002857.3):c.181-5C>T - PEX19_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.254C>T r.(?) p.(Ala85Val) Both (homozygous) ACMG VUS g.160252826G>A - - - PEX19_000006 ACMG PM2, PP3, PP4, BP1; The sib-pair's electroclinical phenotype is different to the previously reported phenotype in a single case, with childhood onset, no dysmorphic features and a less rapidly progressive clinical course. However, the same predicted damaging missense variant is homozygous in four unrelated families (two reported here) with similar presentation from Malta; the same haplotype was confirmed supporting a founder effect. The variant was not present in the Maltese human genome project (n=400). It is therefore with high confidence we expand the PEX19 clinical spectrum to PME. PubMed: Courage 2021, Journal: Courage 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG WES sibling pair - PBD12A PME21 PubMed: Courage 2021, Journal: Courage 2021 family, 2 affected (2M) M yes Malta - - 0 - - 2 Carolina Courage
?/. - c.254C>T r.(?) p.(Ala85Val) Both (homozygous) ACMG VUS g.160252826G>A - - - PEX19_000006 ACMG PM2, PP3, PP4, BP1; The sib-pair's electroclinical phenotype is different to the previously reported phenotype in a single case, with childhood onset, no dysmorphic features and a less rapidly progressive clinical course. However, the same predicted damaging missense variant is homozygous in four unrelated families (two reported here) with similar presentation from Malta; the same haplotype was confirmed supporting a founder effect. The variant was not present in the Maltese human genome project (n=400). It is therefore with high confidence we expand the PEX19 clinical spectrum to PME. PubMed: Courage 2021, Journal: Courage 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG WES sibling pair - PBD12A PME22 PubMed: Courage 2021, Journal: Courage 2021 relative of PME21 M yes Malta - - 0 - - 1 Carolina Courage
?/. - c.254C>T r.(?) p.(Ala85Val) Both (homozygous) ACMG VUS g.160252826G>A - - - PEX19_000006 ACMG PM2, PP3, PP4, BP1; The sib-pair's electroclinical phenotype is different to the previously reported phenotype in a single case, with childhood onset, no dysmorphic features and a less rapidly progressive clinical course. However, the same predicted damaging missense variant is homozygous in four unrelated families (two reported here) with similar presentation from Malta; the same haplotype was confirmed supporting a founder effect. The variant was not present in the Maltese human genome project (n=400). It is therefore with high confidence we expand the PEX19 clinical spectrum to PME. PubMed: Courage 2021, Journal: Courage 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG WES - PBD12A PME60 PubMed: Courage 2021, Journal: Courage 2021 - F no Malta - - 0 - - 1 Carolina Courage
-?/. - c.261C>T r.(?) p.(Phe87=) Unknown - likely benign g.160252819G>A - PEX19(NM_002857.3):c.261C>T (p.F87=) - COPA_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.320del r.(?) p.(Lys107Serfs*13) Both (homozygous) - pathogenic (recessive) g.160252760del - 320delA - PEX19_000002 - PubMed: Mohamed 2010 - - Germline - - - 0 - DNA SEQ - - PBD patient PubMed: Mohamed 2010 - F yes Saudi Arabia - - 0 - - 1 Nancy Braverman
+/. 3 c.320del r.(?) p.(Lys107Serfs*13) Both (homozygous) - pathogenic (recessive) g.160252760del - 320delA - PEX19_000003 - PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - PBD patient PubMed: Ebberink 2011 - - - - - - 0 - - 1 Shandi Hiebler
+/. - c.432+2T>C r.spl? p.? Unknown - pathogenic g.160252205A>G - PEX19(NM_002857.3):c.432+2T>C - COPA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.763dup r.(?) p.(Met255Asnfs*25) Both (homozygous) - pathogenic (recessive) g.160249868dup - 764insA - PEX19_000001 - PubMed: Matsuzono 1999 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD PBDJ-01 PubMed: Matsuzono 1999 - - - Japan - - 0 - - 1 Nancy Braverman
+/. - c.763dup r.(?) p.(Met255Asnfs*25) Unknown - pathogenic g.160249868dup - PEX19(NM_002857.3):c.763dupA (p.M255Nfs*25) - PEX19_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.769C>T r.(?) p.(Gln257*) Both (homozygous) - pathogenic (recessive) g.160249862G>A - 739C>T (Q257X) - PEX19_000005 - PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - PBD patient PubMed: Ebberink 2011 - - - - - - 0 - - 1 Johan den Dunnen
+?/. - c.771+1G>A r.spl? p.? Unknown - likely pathogenic g.160249859C>T - PEX19(NM_002857.3):c.771+1G>A - COPA_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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