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     
+/. - c.274G>C r.(?) p.(Val92Leu) Both (homozygous) - pathogenic (recessive) g.92148392C>G - - - PEX1_000265 - PubMed: Thoms 2011 - - Germline - - - 0 - DNA ? - - PBD ZS2 PubMed: Thoms 2011 - - - Germany - - 0 - - 1 Global Variome, with Curator vacancy
+/. 3 c.274G>C r.(?) p.(Val92Leu) Both (homozygous) - pathogenic (recessive) g.92148392C>G g.92519078C>G - - PEX1_000265 - PubMed: Rosewich 2005 - - Germline - 2/336 case chromosomes - 0 - DNA SEQ - - PBD PatG,A PubMed: Rosewich 2005 - - - Germany - 01y11m 0 - - 1 Global Variome, with Curator vacancy
+?/. - c.274G>C r.(?) p.(Val92Leu) Paternal (confirmed) ACMG pathogenic (recessive) g.92148392C>G g.92519078C>G - - PEX1_000265 - - - - Germline yes - - 0 - DNA SEQ-NG - - retinal disease Fam23P27 PubMed: Karali 2019, Journal: Karali 2019 - F no Italy - - 0 - - 1 Sandro Banfi
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