Full data view for gene PEX13

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.
Legend   How to query  

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.32C>T r.(?) p.(Pro11Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. - c.32C>T r.(?) p.(Pro11Leu) Unknown - VUS g.61244926C>T - PEX13(NM_002618.3):c.32C>T (p.P11L, p.(Pro11Leu)) - PEX13_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query