All transcript variants in gene AIFM1

Information The variants shown are described using the NM_004208.3 transcript reference sequence.

41 entries on 1 page. Showing entries 1 - 41.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. - c.72C>T likely benign r.(?) p.(=) g.129299559G>A - AIFM1(NM_001130847.3):c.72C>T (p.C24=) - AIFM1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.72C>T likely benign r.(?) p.(=) g.129299559G>A - AIFM1(NM_001130847.3):c.72C>T (p.C24=) - AIFM1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.103C>T likely benign r.(?) p.(Pro35Ser) g.129299528G>A - AIFM1(NM_001130847.3):c.103C>T (p.P35S) - AIFM1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.103C>T benign r.(?) p.(Pro35Ser) g.129299528G>A - AIFM1(NM_001130847.3):c.103C>T (p.P35S) - AIFM1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.103C>T benign r.(?) p.(Pro35Ser) g.129299528G>A - AIFM1(NM_001130847.3):c.103C>T (p.P35S) - AIFM1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.119A>G likely benign r.(?) p.(Gln40Arg) g.129290565T>C - AIFM1(NM_001130847.3):c.119A>G (p.Q40R) - AIFM1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.170C>G VUS r.(?) p.(Ser57Cys) g.129290514G>C - AIFM1(NM_001130847.3):c.170C>G (p.S57C) - AIFM1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.170C>G VUS r.(?) p.(Ser57Cys) g.129290514G>C - AIFM1(NM_001130847.3):c.170C>G (p.S57C) - AIFM1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.173G>T VUS r.(?) p.(Gly58Val) g.129290511C>A - AIFM1(NM_001130847.3):c.173G>T (p.G58V) - AIFM1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.249+1179C>T VUS r.(=) p.(=) g.129289256G>A - AIFM1(NM_145812,2):c.112C>T (p.(Gln38*)) - AIFM1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.249+1206A>G likely benign r.(=) p.(=) g.129289229T>C - AIFM1(NM_145812.2):c.139A>G (p.R47G) - AIFM1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 3 c.261T>C - r.(?) p.(=) g.129283532A>G g.130149557A>G D87D - AIFM1_000001 recurrent, found 80 times PubMed: Tarpey 2009 - - Germline - 80/208 cases - 0 - Lucy Raymond
?/. - c.268G>A VUS r.(?) p.(Glu90Lys) g.129283525C>T - AIFM1(NM_001130847.3):c.268G>A (p.E90K) - AIFM1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. 3 c.273T>C - r.(?) p.(=) g.129283520A>G g.130149545A>G D91D - AIFM1_000002 recurrent, found 88 times PubMed: Tarpey 2009 - - Germline - 88/208 cases - 0 - Lucy Raymond
-/. - c.273T>C benign r.(?) p.(=) g.129283520A>G - AIFM1(NM_001130847.3):c.273T>C (p.=) - AIFM1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.274G>A likely benign r.(?) p.(Glu92Lys) g.129283519C>T - AIFM1(NM_001130847.3):c.274G>A (p.(Glu92Lys), p.(Glu88Lys)) - AIFM1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.287A>G VUS r.(?) p.(Asn96Ser) g.129283506T>C - AIFM1(NM_001130847.3):c.287A>G (p.(Asn96Ser), p.(Asn92Ser)) - AIFM1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.667G>A VUS r.(?) p.(Gly223Ser) g.129279483C>T - AIFM1(NM_001130847.3):c.667G>A (p.(Gly223Ser), p.(Gly219Ser)) - AIFM1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. 5i c.696+47A>C - r.(=) p.(=) g.129279407T>G g.130145432T>G - - AIFM1_000008 - - - - Germline - - - 0 - Yu Sun
-?/. - c.761A>G likely benign r.(?) p.(Glu254Gly) g.129274528T>C - AIFM1(NM_001130846.2):c.-3457A>G (p.(=), p.(Glu254Gly), p.(Glu250Gly)) - AIFM1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.761A>G VUS r.(?) p.(Glu254Gly) g.129274528T>C - AIFM1(NM_001130846.2):c.-3457A>G (p.(=), p.(Glu254Gly), p.(Glu250Gly)) - AIFM1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 8 c.789G>A - r.(?) p.? g.129273839C>T g.130139864C>T L263L - AIFM1_000003 found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. 8 c.801G>A - r.(?) p.(=) g.129273827C>T g.130139852C>T L267L - AIFM1_000004 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.844A>G VUS r.(?) p.(Thr282Ala) g.129273784T>C - AIFM1(NM_004208.3):c.844A>G (p.Thr282Ala) - AIFM1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.918C>T benign r.(?) p.(=) g.129272617G>A - AIFM1(NM_001130847.3):c.918C>T (p.=) - AIFM1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.939C>T likely benign r.(?) p.(=) g.129272596G>A - AIFM1(NM_001130847.3):c.939C>T (p.=) - AIFM1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.968-132T>C likely benign r.(=) p.(=) g.129271292A>G - AIFM1(NM_001130846.2):c.-221T>C (p.(=)) - AIFM1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.996A>G benign r.(?) p.(=) g.129271132T>C - AIFM1(NM_004208.3):c.996A>G (p.=) - AIFM1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 10 c.1013G>A - r.(?) p.(Gly338Glu) g.129271115C>T g.130137140C>T - - AIFM1_000005 - - - - Germline - - - 0 - Daria Diodato
-?/. 12i c.1306-34del - r.(=) p.(=) g.129267464del g.130133489del - - AIFM1_000007 - - - - Germline - - - 0 - Yu Sun
-?/. - c.1329C>T likely benign r.(?) p.(=) g.129267407G>A - AIFM1(NM_004208.3):c.1329C>T (p.Y443=) - AIFM1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.1352G>A pathogenic r.(?) p.(Arg451Gln) g.129267384C>T - AIFM1(NM_004208.3):c.1352G>A (p.(Arg451Gln)) - AIFM1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.1388G>T VUS r.(?) p.(Arg463Ile) g.129267348C>A - AIFM1(NM_004208.3):c.1388G>T (p.R463I) - AIFM1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1416T>C likely benign r.(?) p.(=) g.129267320A>G - AIFM1(NM_001130846.2):c.360T>C (p.(=)) - AIFM1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1449-5_1449-3del likely benign r.spl? p.? g.129265781_129265783del - AIFM1(NM_001130847.3):c.*677-5_*677-3delCTT - AIFM1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1473C>T likely benign r.(?) p.(=) g.129265750G>A - AIFM1(NM_004208.3):c.1473C>T (p.G491=) - AIFM1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1592A>C VUS r.(?) p.(Glu531Ala) g.129264123T>G - AIFM1(NM_004208.3):c.1592A>C (p.E531A) - AIFM1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1594A>G likely benign r.(?) p.(Ser532Gly) g.129264121T>C - AIFM1(NM_001130846.2):c.538A>G (p.(Ser180Gly), p.(=), p.(Ser532Gly), p.(Ser528Gly), p.(Ser245Gly)) - AIFM1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1627A>G VUS r.(?) p.(Ile543Val) g.129264088T>C - AIFM1(NM_001130846.2):c.571A>G (p.(Ile191Val), p.(=), p.(Ile543Val), p.(Ile539Val), p.(Ile256Val)) - AIFM1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1661C>T VUS r.(?) p.(Pro554Leu) g.129264054G>A - AIFM1(NM_004208.3):c.1661C>T (p.P554L) - AIFM1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1833T>C likely benign r.(?) p.(=) g.129263541A>G - AIFM1(NM_001130846.2):c.777T>C (p.(=)) - AIFM1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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