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.23C>G r.(?) p.(Ser8Cys) g.39322390G>C Copied from the Exome Variant Server ECH1_000096 1/13000 1/8598 0/4402
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