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.

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.748T>C r.(?) p.(Trp250Arg) Unknown - likely benign g.77895667A>G g.76983431A>G PEX2(NM_000318.2):c.748T>C (p.(Trp250Arg)), PEX2(NM_001172086.1):c.748T>C (p.W250R) - PEX2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.748T>C r.(?) p.(Trp250Arg) Unknown - likely benign g.77895667A>G g.76983431A>G PEX2(NM_000318.2):c.748T>C (p.(Trp250Arg)), PEX2(NM_001172086.1):c.748T>C (p.W250R) - PEX2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.748T>C r.(?) p.(Trp250Arg) Parent #1 - VUS g.77895667A>G g.76983431A>G - - PEX2_000042 conflicting interpretations of pathogenicity; 6 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs142645936 Germline - 6/2793 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 6 Mohammed Faruq
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