Full data view for gene PEX2

This database is one of the dbPEX gene variant databases.
Information The variants shown are described using the NM_000318.2 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     
+/. - c.865dup r.(?) p.(Ser289Lysfs*36) Both (homozygous) - pathogenic (recessive) g.77895550dup - 865_866insA - PEX2_000043 father not available PubMed: Sevin 2011 - - Germline yes - - 0 - DNA SEQ - PEX gene panel ? Pat1/2 PubMed: Sevin 2011 2-generation family, 2 affected brothers, unaffected heterozygous carrier mother M no France - - 0 - - 1 Johan den Dunnen
+/. - c.865dup r.(?) p.(Ser289Lysfs*36) Parent #2 - pathogenic (recessive) g.77895550dup - 865_866insA - PEX2_000043 - PubMed: Mignarri 2012 - - Germline - - - 0 - DNA SEQ - - ? patient PubMed: Mignarri 2012 - M - Italy - - 0 - - 1 Johan den Dunnen
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