Unique variants in the IRAK1 gene

Information The variants shown are described using the NM_001569.3 transcript reference sequence.

48 entries on 1 page. Showing entries 1 - 48.
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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.-324643_*566504dup r.0? p.0? - pathogenic g.152710806_153609906dup - MECP2 - MECP2_002820 - PubMed: Hu 2016 - - Germline yes - - - - Johan den Dunnen
?/. 1 - c.195C>T r.(?) p.(Arg65=) - VUS g.153284991G>A - IRAK1(NM_001569.3):c.195C>T (p.R65=) - MECP2_002942 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.338C>T r.(?) p.(Thr113Ile) - likely benign g.153284746G>A g.154019295G>A IRAK1(NM_001569.4):c.338C>T (p.T113I) - MECP2_002825 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/., -?/. 2 - c.361A>C r.(?) p.(Ile121Leu) - benign, likely benign g.153284723T>G - IRAK1(NM_001569.3):c.361A>C (p.I121L), IRAK1(NM_001569.4):c.361A>C (p.I121L) - MECP2_002923 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.371C>T r.(?) p.(Pro124Leu) - likely benign g.153284713G>A g.154019262G>A IRAK1(NM_001569.3):c.371C>T (p.P124L) - MECP2_002847 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.437-17C>T r.(=) p.(=) - likely benign g.153284546G>A g.154019095G>A IRAK1(NM_001569.4):c.437-17C>T - MECP2_002868 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.437-1G>A r.spl? p.? - VUS g.153284530C>T - - - IRAK1_000056 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - Liu Wenbing
-?/., ./. 3 4 c.483C>T r.(=), r.(?) p.(=) - likely benign, VUS g.153284483G>A g.154019032G>A V161V - IRAK1_000018 recurrent, found 162 times PubMed: Tarpey 2009 - - Germline - 162/208 cases - - - Yu Sun, Lucy Raymond
-?/. 1 - c.540+14G>T r.(=) p.(=) - likely benign g.153284412C>A - IRAK1(NM_001569.4):c.540+14G>T - MECP2_002944 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.540+19C>T r.(=) p.(=) - likely benign g.153284407G>A g.154018956G>A IRAK1(NM_001569.4):c.540+19C>T - MECP2_002824 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.583C>G r.(?) p.(Pro195Ala) - likely benign g.153284196G>C g.154018745G>C IRAK1(NM_001569.3):c.583C>G (p.P195A) - MECP2_002867 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 5 c.585C>T r.(?) p.(=) - likely benign g.153284194G>A g.154018743G>A P195P - IRAK1_000045 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
./. 2 - c.587T>C r.(?) p.(Phe196Ser) - VUS g.153284192A>G g.154018741A>G - - IRAK1_000015 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.591G>A r.(?) p.(Pro197=) - likely benign g.153284188C>T - IRAK1(NM_001569.4):c.591G>A (p.P197=) - MECP2_002941 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 2 - c.792C>A r.(?) p.(Ser264=) - likely benign g.153283744G>T g.154018293G>T IRAK1(NM_001025242.1):c.792C>A (p.(=)), IRAK1(NM_001569.3):c.792C>A (p.S264=) - IRAK1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.909+6C>T r.(=) p.(=) - likely benign g.153283451G>A g.154018000G>A IRAK1(NM_001025242.1):c.909+6C>T (p.(=)) - IRAK1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
./. 2 - c.909+178_909+179del r.(=) p.(=) - VUS g.153283278_153283279del g.154017827_154017828del - - IRAK1_000036 - - - - Germline - - - - - Yu Sun
?/. 1 - c.1048G>T r.(?) p.(Glu350*) - VUS g.153282076C>A - - - IRAK1_000055 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - Liu Wenbing
?/. 1 - c.1052G>T r.(?) p.(Arg351Met) - VUS g.153282072C>A - - - IRAK1_000054 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - Liu Wenbing
?/. 1 - c.1088G>C r.(?) p.(Arg363Pro) - VUS g.153282036C>G g.154016585C>G IRAK1(NM_001569.3):c.1088G>C (p.R363P) - MECP2_002822 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1096C>T r.(?) p.(Arg366Cys) - likely benign g.153282028G>A - IRAK1(NM_001569.3):c.1096C>T (p.R366C) - MECP2_002926 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.1104C>T r.(?) p.(Ala368=) - likely benign g.153282020G>A g.154016569G>A IRAK1(NM_001569.3):c.1104C>T (p.A368=), IRAK1(NM_001569.4):c.1104C>T (p.A368=) - IRAK1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 - c.1106G>A r.(?) p.(Gly369Glu) - VUS g.153282018C>T g.154016567C>T IRAK1(NM_001025242.1):c.1106G>A (p.(Gly369Glu)) - IRAK1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1128C>T r.(?) p.(Ser376=) - likely benign g.153281996G>A - IRAK1(NM_001569.3):c.1128C>T (p.S376=) - IRAK1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1161C>A r.(?) p.(Thr387=) - likely benign g.153281963G>T g.154016512G>T IRAK1(NM_001569.3):c.1161C>A (p.T387=) - IRAK1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1193C>T r.(?) p.(Thr398Met) - VUS g.153281931G>A g.154016480G>A IRAK1(NM_001025242.1):c.1193C>T (p.(Thr398Met)) - IRAK1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1277C>T r.(?) p.(Thr426Met) - likely benign g.153281508G>A - IRAK1(NM_001569.3):c.1277C>T (p.T426M) - IRAK1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 2 - c.1303-129C>T r.(=) p.(=) - VUS g.153279858G>A g.154014407G>A - - IRAK1_000021 - - - - Germline - - - - - Yu Sun
./. 2 - c.1303-98_1303-94del r.(=) p.(=) - VUS g.153279840_153279844del g.154014389_154014393del - - IRAK1_000030 - - - - Germline - - - - - Yu Sun
./. 2 - c.1303-97_1303-94del r.(=) p.(=) - VUS g.153279841_153279844del g.154014390_154014393del - - IRAK1_000026 - - - - Germline - - - - - Yu Sun
./. 1 - c.1303-97_1303-91del r.(=) p.(=) - VUS g.153279820_153279826del g.154014369_154014375del - - IRAK1_000035 - - - - Germline - - - - - Yu Sun
./. 1 - c.1303-94_1303-91del r.(=) p.(=) - VUS g.153279820_153279823del g.154014369_154014372del - - IRAK1_000034 - - - - Germline - - - - - Yu Sun
./. 2 - c.1303-92_1303-90del r.(=) p.(=) - VUS g.153279820_153279822del g.154014369_154014371del - - IRAK1_000032 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.1303-16A>G r.(=) p.(=) - likely benign g.153279745T>C - IRAK1(NM_001569.4):c.1303-16A>G - IRAK1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1588G>A r.(?) p.(Gly530Arg) - likely benign g.153278836C>T - IRAK1(NM_001569.3):c.1588G>A (p.G530R) - IRAK1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./., ?/. 3 12 c.1595C>T r.(?) p.(Ser532Leu) - VUS g.153278829G>A g.154013378G>A S532L - IRAK1_000010 recurrent, found 163 times PubMed: Tarpey 2009 - - Germline - 163/208 cases - - - Yu Sun, Lucy Raymond
-?/. 1 - c.1626G>A r.(?) p.(Pro542=) - likely benign g.153278798C>T g.154013347C>T IRAK1(NM_001569.4):c.1626G>A (p.P542=) - IRAK1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1626G>T r.(?) p.(Pro542=) - likely benign g.153278798C>A g.154013347C>A IRAK1(NM_001569.3):c.1626G>T (p.P542=) - IRAK1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1798C>T r.(?) p.(Arg600Cys) - likely benign g.153278626G>A g.154013175G>A IRAK1(NM_001569.3):c.1798C>T (p.R600C) - IRAK1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1799G>A r.(?) p.(Arg600His) - VUS g.153278625C>T g.154013174C>T IRAK1(NM_001025242.1):c.1709G>A (p.(Arg570His)) - IRAK1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., ?/. 3 12 c.1874C>T r.(?) p.(Thr625Met) - likely benign, VUS g.153278550G>A g.154013099G>A IRAK1(NM_001569.3):c.1874C>T (p.T625M), IRAK1(NM_001569.4):c.1874C>T (p.T625M), T625M - IRAK1_000042 recurrent, found 4 times, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 4/208 cases - - - Lucy Raymond, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.1891T>G r.(?) p.(Trp631Gly) - likely benign g.153278533A>C - IRAK1(NM_001569.4):c.1891T>G (p.W631G) - IRAK1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1924G>A r.(?) p.(Val642Met) - likely benign g.153278500C>T - IRAK1(NM_001569.4):c.1924G>A (p.V642M) - IRAK1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
./. 2 - c.1931-178C>T r.(=) p.(=) - VUS g.153278307G>A g.154012856G>A - - IRAK1_000007 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.2029G>A r.(?) p.(Glu677Lys) - likely benign g.153278031C>T g.154012580C>T IRAK1(NM_001569.3):c.2029G>A (p.E677K) - IRAK1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 2 - c.2080+91G>A r.(=) p.(=) - VUS g.153277889C>T g.154012438C>T - - IRAK1_000004 - - - - Germline - - - - - Yu Sun
./. 2 - c.2081-139T>C r.(=) p.(=) - VUS g.153277507A>G g.154012056A>G - - IRAK1_000001 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.2112C>T r.(?) p.(Pro704=) - likely benign g.153277337G>A - IRAK1(NM_001569.3):c.2112C>T (p.P704=) - IRAK1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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