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

69 entries on 1 page. Showing entries 1 - 69.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+?/+? 1 c.-123G>C Likely pathogenic r.(=) p.(=)
-?/. - 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.262A>G likely benign r.(?) p.(Met88Val)
?/. - c.268G>A VUS r.(?) p.(Glu90Lys)
?/. 3 c.273T>C - r.(?) p.(=)
-/. - c.273T>C benign r.(?) p.(=)
?/. - c.287A>G VUS r.(?) p.(Asn96Ser)
+?/+? 4 c.434C>T Likely pathogenic r.(?) p.(Ala145Val)
+?/+? 4 c.452G>A Likely pathogenic r.(?) p.(Arg151Gln)
?/? 5 c.497C>T VUS r.(?) p.(Pro166Leu)
+?/+? 5 c.572_573delinsCT Likely pathogenic r.(?) p.(Leu191Pro)
+/+ 5 c.601_603del Pathogenic r.(?) p.(Arg201del)
+/+ 6 c.623C>T Pathogenic r.(?) p.(Pro208Leu)
-?/. 5i c.696+47A>C - r.(=) p.(=)
+/+ 7 c.727G>T Pathogenic r.(?) p.(Val243Leu)
?/. - c.761A>G VUS r.(?) p.(Glu254Gly)
+/+ 7 c.778A>G Pathogenic r.(?) p.(Thr260Ala)
?/. 8 c.789G>A - r.(?) p.?
?/. 8 c.801G>A - r.(?) p.(=)
?/. - c.824C>T VUS r.(?) p.(Ala275Val)
?/. - c.844A>G VUS r.(?) p.(Thr282Ala)
+?/+? 8 c.845C>T Likely pathogenic r.(?) p.(Thr282Met)
+?/+? 9 c.860T>C Likely pathogenic r.(?) p.(Ile287Thr)
-/. - c.918C>T benign r.(?) p.(=)
+/+ 9 c.923G>A Pathogenic r.(?) p.(Gly308Glu)
-?/. - c.939C>T likely benign r.(?) p.(=)
-/. - c.996A>G benign r.(?) p.(=)
+/. 10 c.1013G>A - r.(?) p.(Gly338Glu)
+/+ 10 c.1019T>C Pathogenic r.(?) p.(Met340Thr)
+/+ 10 c.1030C>T Pathogenic r.(?) p.(Leu344Phe)
+?/+? 11 c.1078G>C Likely pathogenic r.(?) p.(Gly360Arg)
+?/+? 11 c.1097A>G Likely pathogenic r.(?) p.(Asn366Ser)
-?/. - c.1097A>G likely benign r.(?) p.(Asn366Ser)
-?/-? 11 c.1113C>T Likely benign r.(=) p.(=)
-?/. - c.1117G>A likely benign r.(?) p.(Gly373Arg)
+?/+? 12 c.1184T>G Likely pathogenic r.(?) p.(Val395Gly)
-?/. - c.1227T>G likely benign r.(?) p.(=)
+/+ 12 c.1264C>T Pathogenic r.(?) p.(Arg422Trp)
+/+ 12 c.1265G>A Pathogenic r.(?) p.(Arg422Gln)
-?/. 12i c.1306-34del - r.(=) p.(=)
+?/+? 13 c.1319C>T Likely pathogenic r.(?) p.(Ala440Val)
-/. - c.1329C>T benign r.(?) p.(=)
-?/. - c.1329C>T likely benign r.(?) p.(=)
?/. - c.1334T>C VUS r.(?) p.(Ile445Thr)
+/+ 13 c.1352G>A Pathogenic r.(?) p.(Arg451Gln)
+/. - c.1352G>A pathogenic r.(?) p.(Arg451Gln)
?/. - c.1388G>T VUS r.(?) p.(Arg463Ile)
+?/+? 13 c.1424C>T Likely pathogenic r.(?) p.(Pro475Leu)
-?/. - c.1449-5_1449-3del likely benign r.spl? p.?
-?/. - c.1473C>T likely benign r.(?) p.(=)
+/. - c.1474T>C - r.(?) p.(Tyr492His)
+/+ 14 c.1478A>T Pathogenic r.(?) p.(Glu493Val)
+?/+? 14 c.1492G>A Likely pathogenic r.(?) p.(Val498Met)
?/. - c.1592A>C VUS r.(?) p.(Glu531Ala)
?/. - c.1627A>G VUS r.(?) p.(Ile543Val)
?/. - c.1661C>T VUS r.(?) p.(Pro554Leu)
+?/+? 15 c.1678T>C Likely pathogenic r.(?) p.(Tyr560His)
+?/+? 16 c.1820T>A Likely pathogenic r.(?) p.(Leu607Gln)
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