Transcript #00024036

Transcript name transcript variant 1
Gene name AIFM1 (apoptosis-inducing factor, mitochondrion-associated, 1)
Chromosome X
Transcript - NCBI ID NM_004208.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_004199.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

41 entries on 1 page. Showing entries 1 - 41.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.72C>T likely benign r.(?) p.(=)
-?/. - c.72C>T likely benign r.(?) p.(=)
-/. - c.103C>T benign r.(?) p.(Pro35Ser)
-/. - c.103C>T benign r.(?) p.(Pro35Ser)
-?/. - c.103C>T likely benign r.(?) p.(Pro35Ser)
-?/. - c.119A>G likely benign r.(?) p.(Gln40Arg)
?/. - c.170C>G VUS r.(?) p.(Ser57Cys)
?/. - c.170C>G VUS r.(?) p.(Ser57Cys)
?/. - c.173G>T VUS r.(?) p.(Gly58Val)
?/. - c.249+1179C>T VUS r.(=) p.(=)
-?/. - c.249+1206A>G likely benign r.(=) p.(=)
?/. 3 c.261T>C - r.(?) p.(=)
?/. - c.268G>A VUS r.(?) p.(Glu90Lys)
?/. 3 c.273T>C - r.(?) p.(=)
-/. - c.273T>C benign r.(?) p.(=)
-?/. - c.274G>A likely benign r.(?) p.(Glu92Lys)
?/. - c.287A>G VUS r.(?) p.(Asn96Ser)
?/. - c.667G>A VUS r.(?) p.(Gly223Ser)
-?/. 5i c.696+47A>C - r.(=) p.(=)
?/. - c.761A>G VUS r.(?) p.(Glu254Gly)
-?/. - c.761A>G likely benign r.(?) p.(Glu254Gly)
?/. 8 c.789G>A - r.(?) p.?
?/. 8 c.801G>A - r.(?) p.(=)
?/. - c.844A>G VUS r.(?) p.(Thr282Ala)
-/. - c.918C>T benign r.(?) p.(=)
-?/. - c.939C>T likely benign r.(?) p.(=)
-?/. - c.968-132T>C likely benign r.(=) p.(=)
-/. - c.996A>G benign r.(?) p.(=)
+/. 10 c.1013G>A - r.(?) p.(Gly338Glu)
-?/. 12i c.1306-34del - r.(=) p.(=)
-?/. - c.1329C>T likely benign r.(?) p.(=)
+/. - c.1352G>A pathogenic r.(?) p.(Arg451Gln)
?/. - c.1388G>T VUS r.(?) p.(Arg463Ile)
-?/. - c.1416T>C likely benign r.(?) p.(=)
-?/. - c.1449-5_1449-3del likely benign r.spl? p.?
-?/. - c.1473C>T likely benign r.(?) p.(=)
?/. - c.1592A>C VUS r.(?) p.(Glu531Ala)
-?/. - c.1594A>G likely benign r.(?) p.(Ser532Gly)
?/. - c.1627A>G VUS r.(?) p.(Ile543Val)
?/. - c.1661C>T VUS r.(?) p.(Pro554Leu)
-?/. - c.1833T>C likely benign r.(?) p.(=)
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