Full data view for gene PEX16

This database is one of the dbPEX gene variant databases.
Information The variants shown are described using the 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.953-104del r.(?) p.(=) Both (homozygous) - pathogenic (recessive) g.45931832del - NM_0004813.2:c.984delG - PEX16_000017 - PubMed: Ebberink 2010 - - Germline yes - - 0 - DNA SEQ - - PBD Pat1 PubMed: Ebberink 2010 2-generation family, 2 affected (F, M) F yes Turkey - - 0 - - 2 Johan den Dunnen
+/. - c.953-104del r.(?) p.(=) Both (homozygous) - pathogenic (recessive) g.45931832del - - - PEX16_000017 - PubMed: Ebberink 2010 - - Germline yes - - 0 - DNA SEQ - - PBD Pat2 PubMed: Ebberink 2010 brother M yes Turkey - - 0 - - 1 Johan den Dunnen
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