Transcript #00001234

Transcript name FtsJ homolog 1 (E. coli), transcript variant 1
Gene name FTSJ1 (FtsJ RNA methyltransferase homolog 1 (E. coli))
Chromosome X
Transcript - NCBI ID NM_012280.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_036412.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

31 entries on 1 page. Showing entries 1 - 31.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+/. _1_13 c.(?_-27715)_(15_*1370)del pathogenic (recessive) r.0? p.0?
-?/. - c.-88+3G>A likely benign r.spl? p.?
?/. - c.71G>A VUS r.(?) p.(Arg24His)
./. - c.76G>C - r.(?) p.(Ala26Pro)
+/. 2 c.76G>C pathogenic (recessive) r.(?) p.(Ala26Pro)
+/. 2i c.121+1del pathogenic (recessive) r.121_122ins121+2_121+11 p.?
+?/. - c.157G>A likely pathogenic r.(?) p.(Gly53Ser)
+/. 3i c.192-2A>G pathogenic (recessive) r.192_282del p.?
+/. - c.196C>T pathogenic (recessive) r.(?) p.(Gln66*)
?/. - c.304A>T VUS r.(?) p.(Ile102Phe)
-?/. - c.307C>G likely benign r.(?) p.(Gln103Glu)
-/. - c.307C>G benign r.(?) p.(Gln103Glu)
-?/. - c.325C>T likely benign r.(?) p.(Pro109Ser)
-?/. - c.334C>G likely benign r.(?) p.(Leu112Val)
./. - c.349G>A - r.(?) p.(Gly117Arg)
-?/. 5i c.362-252G>A - r.(?) p.(=)
-?/. 5i c.362-252G>A - r.(?) p.(=)
?/. - c.388T>C VUS r.(?) p.(Tyr130His)
?/. - c.443A>T VUS r.(?) p.(Lys148Met)
-/. - c.495C>T benign r.(?) p.(=)
-?/. - c.572-8C>T likely benign r.(=) p.(=)
-?/. - c.654C>T likely benign r.(?) p.(=)
+/. - c.655G>A pathogenic r.(?) p.(Asp219Asn)
+/. 9 c.655G>A pathogenic (recessive) r.(572_655del) p.?
?/. 10 c.706G>A - r.(?) p.(Val236Met)
-?/. 10 c.738G>A - r.(?) p.(Ser246=)
-?/. - c.769G>A likely benign r.(?) p.(Gly257Ser)
-?/. - c.786C>T likely benign r.(?) p.(=)
+?/. - c.957+1G>A likely pathogenic r.spl? p.?
-?/. 12i c.*10-235_*10-234insTAG - r.(=) p.(=)
-?/. 12i c.*10-235_*10-234insTAG - r.(=) p.(=)
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