All variants in the PEX12 gene

This database is one of the dbPEX gene variant databases.
Information The variants shown are described using the NM_000286.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. - c.758T>C r.(?) p.(Val253Ala) - VUS g.33903123A>G g.35576104A>G PEX12(NM_000286.2):c.758T>C (p.(Val253Ala)) - PEX12_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+?/. 3 c.758T>C r.(?) p.(Phe1765Ser) - likely pathogenic (recessive) g.? - - - PEX12_000023 ACMG PS1, PM2, PM5, PM6, PP2, PP3 - - - De novo - - - 0 - Nancy Braverman
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