All variants in the PEX13 gene

This database is one of the dbPEX gene variant databases.
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     

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.32C>T r.(?) p.(Pro11Leu) - likely benign g.61244926C>T g.61017791C>T PEX13(NM_002618.3):c.32C>T (p.P11L, p.(Pro11Leu)) - PEX13_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.32C>T r.(?) p.(Pro11Leu) - VUS g.61244926C>T - PEX13(NM_002618.3):c.32C>T (p.P11L, p.(Pro11Leu)) - PEX13_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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