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.524-3T>C r.spl? p.? g.39307772A>G Copied from the Exome Variant Server ECH1_000046 1/12966 0/8572 1/4394
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