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.260+30T>A r.(=) p.(=) g.39321919A>T Copied from the Exome Variant Server ECH1_000077 130/13006 0/8600 130/4406
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