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.

10 entries on 1 page. Showing entries 1 - 10.
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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.355C>T r.(?) p.(Arg119*) Parent #1 - pathogenic g.77896060G>A g.76983824G>A - - PEX2_000002 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61752123 Germline - 2/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
+/. 4 c.355C>T r.(?) p.(Arg119*) Both (homozygous) - pathogenic (recessive) g.77896060G>A - - - PEX2_000002 - PubMed: Gootjes 2004 - - Germline - - - 0 - DNA SEQ - - PBD Pat3 PubMed: Gootjes 2004 - - - - - - 0 - - 1 Nancy Braverman
+/. 4 c.355C>T r.(?) p.(Arg119*) Both (homozygous) - pathogenic (recessive) g.77896060G>A - - - PEX2_000002 - PubMed: Shimozawa 1992 - - Germline - - - 0 - DNA SEQ - - PBD PatMM/F-01 PubMed: Shimozawa 1992 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Japan - - 0 - - 1 Nancy Braverman
+/. 4 c.355C>T r.(?) p.(Arg119*) Both (homozygous) - pathogenic (recessive) g.77896060G>A - - - PEX2_000002 - PubMed: Steinberg 2004 - - Germline - - - 0 - DNA SEQ - - PBD Pat628 PubMed: Steinberg 2004 - - - United States - - 0 - - 1 Nancy Braverman
+/. 4 c.355C>T r.(?) p.(Arg119*) Both (homozygous) - pathogenic (recessive) g.77896060G>A - - - PEX2_000002 - PubMed: Steinberg 2004 - - Germline - - - 0 - DNA SEQ - - PBD Pat657 PubMed: Steinberg 2004 - - - United States - - 0 - - 1 Nancy Braverman
+/. 4 c.355C>T r.(?) p.(Arg119*) Both (homozygous) - pathogenic (recessive) g.77896060G>A - - - PEX2_000002 - PubMed: Steinberg 2004 - - Germline - - - 0 - DNA SEQ - - PBD Pat661 PubMed: Steinberg 2004 - - - United States - - 0 - - 1 Nancy Braverman
+/. 4 c.355C>T r.(?) p.(Arg119*) Maternal (confirmed) - pathogenic (recessive) g.77896060G>A - - - PEX2_000002 - PubMed: Shimozawa 1998 - - Germline - - - 0 - DNA SEQ - - PBD patient PubMed: Shimozawa 1998 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Japan - - 0 - - 1 Nancy Braverman
+/. 4 c.355C>T r.355c>u p.Arg119* Parent #1 - pathogenic (recessive) g.77896060G>A - - - PEX2_000002 - PubMed: Imamura 1998 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD PatF-05 PubMed: Imamura 1998 - - - Japan - - 0 - - 1 Nancy Braverman
+/. 4 c.355C>T r.355c>u p.Arg119* Both (homozygous) - pathogenic (recessive) g.77896060G>A - - - PEX2_000002 - PubMed: Shimozawa 1993 - - Germline - - - 0 - DNA SEQ - - PBD Z3 PubMed: Shimozawa 1993 - - - Netherlands - - 0 - - 1 Johan den Dunnen
+/. - c.355C>T r.(?) p.(Arg119*) Parent #1 - pathogenic (recessive) g.77896060G>A - - - PEX2_000002 - PubMed: Mignarri 2012 - - Germline - - - 0 - DNA SEQ - - ? patient PubMed: Mignarri 2012 - M - Italy - - 0 - - 1 Johan den Dunnen
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