Full data view for gene PEX5

This database is one of the dbPEX gene variant databases.
Information The variants shown are described using the NM_000319.4 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/. 15 c.1775C>G r.(?) p.(Ser592Trp) Both (homozygous) - pathogenic (recessive) g.7362698C>G - 1799C>G (S600W) - PEX5_000005 - PubMed: Ebberink 2008 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD - PubMed: Ebberink 2008 - - - - - - 0 - - 1 Nancy Braverman
+/. 15 c.1775C>G r.(?) p.(Ser592Trp) Both (homozygous) - pathogenic (recessive) g.7362698C>G - 1799C>G (S600W) - PEX5_000005 - PubMed: Shimozawa 1999 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD S-03 PubMed: Shimozawa 1999 - - - - - - 0 - - 1 Nancy Braverman
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