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.523+6T>G r.(=) p.(=) g.39307950A>C Copied from the Exome Variant Server ECH1_000051 1/12936 0/8562 1/4374
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