All variants in the PEX19 gene

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

17 entries on 1 page. Showing entries 1 - 17.
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.-10668A>C r.(?) p.(=) - VUS g.160265582T>G g.160295792T>G COPA(NM_001098398.2):c.2447A>C (p.N816T) - COPA_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-9701A>T r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
?/. - c.-9679G>A r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
?/. - c.-9424G>T r.(?) p.(=) - 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 - VKGL-NL_Rotterdam
-?/. - c.-9366T>G r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.-7416A>C r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
?/. - c.-7070G>A r.(?) p.(=) - 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 - VKGL-NL_Rotterdam
-?/. - c.-6872C>T r.(?) p.(=) - likely benign g.160261786G>A g.160291996G>A COPA(NM_001098398.1):c.3174+16C>T - COPA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.-5550C>T r.(?) p.(=) - likely benign g.160260464G>A - COPA(NM_001098398.2):c.3460C>T (p.L1154=) - COPA_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-5353C>A r.(?) p.(=) - likely benign g.160260267G>T g.160290477G>T COPA(NM_001098398.1):c.3642+15C>A - COPA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.181-5C>T r.spl? p.? - 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 - VKGL-NL_Rotterdam
-?/. - c.181-5C>T r.spl? p.? - 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 - - - - - VKGL-NL_AMC
+/. 3 c.320del r.(?) p.(Lys107Serfs*13) - pathogenic (recessive) g.160252760del - 320delA - PEX19_000002 - PubMed: Mohamed 2010 - - Germline - - - 0 - Nancy Braverman
+/. 3 c.320del r.(?) p.(Lys107Serfs*13) - pathogenic (recessive) g.160252760del - 320delA - PEX19_000003 - PubMed: Ebberink 2011 - - Germline - - - 0 - Shandi Hiebler
+/. - c.432+2T>C r.spl? p.? - pathogenic g.160252205A>G g.160282415A>G PEX19(NM_002857.3):c.432+2T>C - COPA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 6 c.763dup r.(?) p.(Met255Asnfs*25) - pathogenic (recessive) g.160249868dup - 764insA - PEX19_000001 - PubMed: Matsuzono 1999 - - Germline - - - 0 - Nancy Braverman
+/. - c.769C>T r.(?) p.(Gln257*) - pathogenic (recessive) g.160249862G>A - 739C>T (Q257X) - PEX19_000005 - PubMed: Ebberink 2011 - - Germline - - - 0 - Johan den Dunnen
Legend   How to query