Full data view for gene PEX1

This database is one of the dbPEX gene variant databases.
Information The variants shown are described using the NM_000466.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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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     
+/+ 5 c.643_647del r.(?) p.(Thr215Alafs*11) Parent #1 - pathogenic g.92147185_92147189del g.92517871_92517875del - - PEX1_000061 - MORL Deafness Variation Database, PubMed: Rosewich 2005, PubMed: Steinberg 1993, PubMed: Yik 2009 - - Germline - - - 0 - DNA ? - - PBD - PubMed: Rosewich 2005, PubMed: Steinberg 1993, - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. 5 c.643_647del r.(?) p.(Thr215Alafs*11) Parent #1 - pathogenic (recessive) g.92147185_92147189del g.92517871_92517875del 643_647delACCAA - PEX1_000061 - - - - Germline - - - 0 - DNA SEQ - - PBD - - - - - - - - 0 - - 1 Nancy Braverman
+/. 5 c.643_647del r.(?) p.(Thr215Alafs*11) Parent #1 - pathogenic (recessive) g.92147185_92147189del g.92517871_92517875del 782_783delAA - PEX1_000061 - PubMed: Yik 2009 - - Germline - - - 0 - DNA SEQ - - PBD Pat662 PubMed: Yik 2009 - - - United States - - 0 - - 1 Johan den Dunnen
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