Transcript #00000828

Transcript name transcript variant 3
Gene name ELAC2 (elaC homolog 2 (E. coli))
Chromosome 17
Transcript - NCBI ID NM_001165962.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001159434.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

13 entries on 1 page. Showing entries 1 - 13.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.319A>G VUS r.(?) p.(Asn107Asp)
-?/. - c.368-4T>A likely benign r.spl? p.?
?/. - c.902_903insGGGT VUS r.(?) p.(His302Glyfs*24)
-?/. - c.1185-7_1185-6insTCTC likely benign r.(=) p.(=)
-?/. - c.1185-6dup likely benign r.(=) p.(=)
-/. - c.1501G>A benign r.(?) p.(Ala501Thr)
?/. - c.1578+5G>A VUS r.spl? p.?
-?/. - c.1760C>T likely benign r.(?) p.(Ser587Leu)
?/. - c.*629C>T - - p.(=)
-?/. - c.*8171T>G likely benign r.(=) p.(=)
-?/. - c.*8173C>G likely benign r.(=) p.(=)
-?/. - c.*8174T>G likely benign r.(=) p.(=)
-?/. - c.*8183T>G likely benign r.(=) p.(=)
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