Unique variants in the AIMP1 gene

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

34 entries on 1 page. Showing entries 1 - 34.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

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     
-?/. 1 - c.-269070G>A r.(?) p.(=) - likely benign g.106967749G>A g.106046592G>A TBCK(NM_001290768.1):c.2144C>T (p.T715I) - AIMP1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-268969dup r.(?) p.(=) - likely benign g.106967850dup - TBCK(NM_001290768.1):c.2056-5dupT - AIMP1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-220197T>A r.(?) p.(=) - likely benign g.107016622T>A - TBCK(NM_001290768.2):c.2055+17A>T - AIMP1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.-199407T>A r.(?) p.(=) - likely benign g.107037412T>A g.106116255T>A TBCK(NM_001163435.1):c.2359A>T (p.(Thr787Ser)) - AIMP1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.-144518G>C r.(?) p.(=) - VUS g.107092301G>C - TBCK(NM_001290768.1):c.1670C>G (p.S557W) - AIMP1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.-121965dup r.(?) p.(=) - likely pathogenic g.107114854dup - TBCK(NM_001290768.2):c.1455dupT (p.I486Yfs*16) - AIMP1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.-121882G>A r.(?) p.(=) - likely benign g.107114937G>A g.106193780G>A TBCK(NM_001290768.1):c.1382-10C>T - TBCK_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-83902A>T r.(?) p.(=) - likely benign g.107152917A>T - TBCK(NM_001290768.1):c.1143T>A (p.A381=) - AIMP1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 3 - c.-82720C>T r.(?) p.(=) - pathogenic g.107154099C>T g.106232942C>T TBCK(NM_001290768.1):c.1119G>A (p.W373*), TBCK(NM_001290768.2):c.1119G>A (p.W373*) - AIMP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/. 1 - c.-82693T>C r.(?) p.(=) - likely benign g.107154126T>C - TBCK(NM_001290768.1):c.1092A>G (p.V364=) - AIMP1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-79257G>A r.(?) p.(=) - likely benign g.107157562G>A - TBCK(NM_001290768.1):c.819C>T (p.F273=) - AIMP1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-79197C>T r.(?) p.(=) - likely benign g.107157622C>T - TBCK(NM_001290768.2):c.759G>A (p.T253=) - AIMP1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.-73152T>A r.(?) p.(=) - VUS g.107163667T>A - TBCK(NM_001290768.1):c.614A>T (p.D205V) - TBCK_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-73144C>A r.(?) p.(=) - likely benign g.107163675C>A - TBCK(NM_001290768.2):c.606G>T (p.S202=) - AIMP1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.-70940A>G r.(?) p.(=) - VUS g.107165879A>G - TBCK(NM_001290768.1):c.458T>C (p.V153A) - AIMP1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-70907T>C r.(?) p.(=) - VUS g.107165912T>C - TBCK(NM_001290768.1):c.425A>G (p.N142S) - AIMP1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-68425G>A r.(?) p.(=) - likely benign g.107168394G>A g.106247237G>A TBCK(NM_001290768.1):c.317C>T (p.P106L) - AIMP1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.-68396_-68395insTTCA r.(?) p.(=) - pathogenic g.107168423_107168424insTTCA g.106247266_106247267insTTCA - - AIMP1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.-68396_-68393del r.(?) p.(=) - likely pathogenic g.107168423_107168426del - TBCK(NM_001290768.2):c.287_290delTGAA (p.M96Rfs*26) - TBCK_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.-66709C>T r.(?) p.(=) - VUS g.107170110C>T - TBCK(NM_001290768.1):c.172G>A (p.A58T) - AIMP1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 - c.-53559G>A r.(?) p.(=) - pathogenic g.107183260G>A g.106262103G>A TBCK(NM_001163435.3):c.376C>T (p.R126*) - TBCK_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
-/. 1 - c.-25-6C>A r.(=) p.(=) - benign g.107246136C>A g.106324979C>A AIMP1(NM_004757.4):c.-25-6C>A - AIMP1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.-15C>T r.(?) p.(=) - likely benign g.107246152C>T g.106324995C>T AIMP1(NM_001142416.1):c.58C>T (p.R20C) - AIMP1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.125T>C r.(?) p.(Leu42Ser) - VUS g.107248623T>C g.106327466T>C AIMP1(NM_004757.3):c.125T>C (p.(Leu42Ser)) - AIMP1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.146G>A r.(?) p.(Arg49Gln) - likely benign g.107248644G>A g.106327487G>A AIMP1(NM_004757.3):c.146G>A (p.R49Q) - AIMP1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.334C>T r.(?) p.(Gln112Ter) - pathogenic g.107249343C>T g.106328186C>T AIMP1(NM_004757.3):c.334C>T (p.Q112*) - AIMP1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.338dup r.(?) p.(Gly115Argfs*14) - VUS g.107249347dup - AIMP1(NM_004757.3):c.338dupT (p.G115Rfs*14) - AIMP1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.349del r.(?) p.(Thr117GlnfsTer25) - pathogenic g.107249358del g.106328201del AIMP1(NM_004757.3):c.349delA (p.T117Qfs*25) - AIMP1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.359A>G r.(?) p.(Glu120Gly) - likely benign g.107249368A>G g.106328211A>G AIMP1(NM_004757.4):c.359A>G (p.E120G) - AIMP1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 2 5 c.527T>G r.(?) p.(Val176Gly) - likely pathogenic, likely pathogenic (recessive) g.107252964T>G g.106331807T>G - - AIMP1_000002 novel candidate disease gene PubMed: Hu 2019 - - Germline yes - - - - Johan den Dunnen, Zafar Iqbal
?/. 1 - c.592C>T r.(?) p.(Pro198Ser) - VUS g.107253029C>T g.106331872C>T AIMP1(NM_004757.3):c.592C>T (p.P198S) - AIMP1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.604-10T>C r.(=) p.(=) - likely benign g.107258016T>C g.106336859T>C AIMP1(NM_004757.3):c.604-10T>C - AIMP1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.845A>G r.(?) p.(Asp282Gly) - VUS g.107268755A>G g.106347598A>G - - AIMP1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 7 c.895G>A r.(?) p.(Gly299Arg) - likely pathogenic g.107268805G>A g.106347648G>A - - AIMP1_000001 - - - - Germline yes - - - - Zafar Iqbal
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