Transcript #00015994

Transcript name peroxisomal biogenesis factor 13
Gene name PEX13 (peroxisomal biogenesis factor 13)
Chromosome 2
Transcript - NCBI ID NM_002618.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_002609.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

2 entries on 1 page. Showing entries 1 - 2.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+/. - c.10C>T pathogenic r.(?) p.(Gln4*)
?/. - c.355G>A VUS r.(?) p.(Val119Ile)
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