All transcript variants in gene ECH1

Information The variants shown are described using the NM_001398.2 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.302_305del r.(?) p.(Asp101Valfs*5) g.39321762_39321765del Copied from the Exome Variant Server ECH1_000071 1/12518 1/8254 0/4264
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