Unique variants in gene PEX13

Information The variants shown are described using the NM_002618.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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.10C>T pathogenic r.(?) p.(Gln4*) g.61244904C>T - PEX13(NM_002618.3):c.10C>T (p.Q4*) - PEX13_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.355G>A VUS r.(?) p.(Val119Ile) g.61258816G>A - PEX13(NM_002618.3):c.355G>A (p.V119I) - PEX13_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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