Unique variants in gene PEX3

Information The variants shown are described using the NM_003630.2 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
?/. 1 - c.122A>G VUS r.(?) p.(Gln41Arg) g.143780270A>G - PEX3(NM_003630.2):c.122A>G (p.Q41R) - PEX3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.206-14del benign r.(=) p.(=) g.143784039del - PEX3(NM_003630.2):c.206-14delT - PEX3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.382C>G likely benign r.(?) p.(Leu128Val) g.143792148C>G - PEX3(NM_003630.2):c.382C>G (p.(Leu128Val)) - PEX3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.524-19T>C benign r.(=) p.(=) g.143792675T>C - PEX3(NM_003630.2):c.524-19T>C - PEX3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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