Unique variants in gene AP4E1

Information The variants shown are described using the NM_001252127.1 transcript reference sequence.

47 entries on 1 page. Showing entries 1 - 47.
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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     
?/?, ./. 3 - c.-153036_1091+523del r.? p.? - pathogenic g.51048188_51240879del g.50755991_50948682del hg18:g.48835480_49028171del - AP4E1_000003 - PubMed: Moreno-De-Luca 2011 - - Germline yes - - - - Johan den Dunnen
+/. 1 - c.(?_-98-1)_(*1_?)del r.? p.? - pathogenic g.51204274_51397374del g.50912077_51105177del - - AP4E1_000005 193 kb deletion, brother heterozygous for deletion PubMed: Karaca 2015 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.-84A>G r.(?) p.(=) - likely benign g.51204289A>G g.50912092A>G AP4E1(NM_007347.4):c.165A>G (p.L55=) - AP4E1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-78G>A r.(?) p.(=) - likely benign g.51204295G>A g.50912098G>A AP4E1(NM_007347.4):c.171G>A (p.Q57=) - AP4E1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.-27+18G>A r.(=) p.(=) - benign g.51204364G>A g.50912167G>A AP4E1(NM_001252127.1):c.-27+18G>A, AP4E1(NM_007347.4):c.222+18G>A - AP4E1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Rotterdam
+/? 1 ? c.(?_-1)_1091+523del r.0 p.0 - pathogenic g.51048188_51240879del g.50755991_50948682del - - AP4E1_000003 - - - - Germline yes - - - - Johan den Dunnen
-?/. 1 - c.33T>C r.(?) p.(Tyr11=) - likely benign g.51207680T>C g.50915483T>C AP4E1(NM_001252127.1):c.33T>C (p.Y11=) - AP4E1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.50A>G r.(?) p.(Tyr17Cys) - VUS g.51207697A>G g.50915500A>G AP4E1(NM_007347.4):c.275A>G (p.Y92C) - AP4E1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.195+9T>C r.(=) p.(=) - likely benign g.51216210T>C g.50924013T>C AP4E1(NM_007347.4):c.420+9T>C - AP4E1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.196-20T>C r.(=) p.(=) - likely benign g.51217275T>C g.50925078T>C AP4E1(NM_007347.4):c.421-20T>C - AP4E1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.262T>C r.(?) p.(Cys88Arg) - benign g.51217361T>C g.50925164T>C AP4E1(NM_001252127.1):c.262T>C (p.C88R), AP4E1(NM_007347.4):c.487T>C (p.C163R) - AP4E1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Rotterdam
+/? 2 ? c.317+5_317+8del r.317_438del p.Glu181Glyfs*20 - pathogenic g.51217421_51217424del g.50925224_50925227del NM_007347.4:c.542+1_542+4del - AP4E1_000001 not in 740 control chromosomesc.317+1_317+4del, not in 740 control chromosomes PubMed: Abou Jamra 2011 - - Germline yes - - - - Johan den Dunnen
?/. 1 - c.491G>T r.(?) p.(Gly164Val) - VUS g.51223015G>T g.50930818G>T AP4E1(NM_001252127.1):c.491G>T (p.(Gly164Val)) - AP4E1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.627A>G r.(?) p.(Leu209=) - likely benign g.51223151A>G g.50930954A>G AP4E1(NM_007347.4):c.852A>G (p.L284=) - AP4E1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.664G>T r.(?) p.(Asp222Tyr) - VUS g.51226840G>T g.50934643G>T AP4E1(NM_007347.4):c.889G>T (p.D297Y) - AP4E1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.685C>T r.(?) p.(Arg229Ter) - pathogenic g.51226861C>T g.50934664C>T AP4E1(NM_001252127.1):c.685C>T (p.R229*) - AP4E1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.811C>A r.(?) p.(Leu271Met) - VUS g.51233731C>A g.50941534C>A AP4E1(NM_007347.4):c.1036C>A (p.L346M) - AP4E1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.811_812del r.(?) p.(Leu271Valfs*3) ACMG likely pathogenic g.51233731_51233732del g.50941534_50941535del - - AP4E1_000004 - Trujillano et al., submitted - - Germline - - - - - Daniel Trujillano
?/. 1 - c.880A>C r.(?) p.(Thr294Pro) - VUS g.51233901A>C g.50941704A>C AP4E1(NM_007347.4):c.1105A>C (p.T369P) - AP4E1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.951+9G>A r.(=) p.(=) - likely benign g.51233981G>A g.50941784G>A AP4E1(NM_001252127.1):c.951+9G>A - AP4E1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., -/. 2 - c.952-9T>C r.(=) p.(=) - likely benign, benign g.51240208T>C g.50948011T>C AP4E1(NM_001252127.1):c.952-9T>C, AP4E1(NM_007347.4):c.1177-9T>C - AP4E1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Rotterdam
?/. 1 - c.1051A>C r.(?) p.(Ile351Leu) - VUS g.51240316A>C g.50948119A>C AP4E1(NM_001252127.1):c.1051A>C (p.I351L) - AP4E1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1051A>G r.(?) p.(Ile351Val) - VUS g.51240316A>G g.50948119A>G AP4E1(NM_001252127.1):c.1051A>G (p.I351V) - AP4E1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.1111T>C r.(?) p.(Trp371Arg) - VUS g.51242042T>C g.50949845T>C AP4E1(NM_007347.4):c.1336T>C (p.W446R) - AP4E1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1124C>A r.(?) p.(Thr375Lys) - VUS g.51242055C>A g.50949858C>A AP4E1(NM_001252127.1):c.1124C>A (p.(Thr375Lys)) - AP4E1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/? 2 ? c.1166_1176del r.(?) p.(Pro389Glnfs*2) - benign g.51242097_51242107del g.50949900_50949910del NM_007347.4:c.1346+44_1346+54del - AP4E1_000002 intron 11, intron 11; tested 320 control chromosomes PubMed: Abou Jamra 2011 - - Germline ?, no 0.20 - - - Johan den Dunnen
-?/. 1 - c.1260T>C r.(?) p.(Tyr420=) - likely benign g.51242303T>C g.50950106T>C AP4E1(NM_007347.4):c.1485T>C (p.Y495=) - AP4E1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1341C>G r.(?) p.(Ser447=) - likely benign g.51250706C>G g.50958509C>G AP4E1(NM_007347.4):c.1566C>G (p.S522=) - AP4E1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1600G>C r.(?) p.(Val534Leu) - likely benign g.51250965G>C g.50958768G>C AP4E1(NM_001252127.1):c.1600G>C (p.(Val534Leu)) - AP4E1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1626+2_1626+5dup r.spl? p.? - VUS g.51250993_51250996dup - AP4E1(NM_001252127.1):c.1626_1626+1insGTAA - AP4E1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1700C>T r.(?) p.(Pro567Leu) - VUS g.51260533C>T g.50968336C>T AP4E1(NM_001252127.1):c.1700C>T (p.(Pro567Leu)) - AP4E1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1883T>C r.(?) p.(Leu628Pro) - VUS g.51285584T>C g.50993387T>C AP4E1(NM_001252127.1):c.1883T>C (p.L628P) - AP4E1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1968T>C r.(?) p.(Pro656=) - likely benign g.51285669T>C g.50993472T>C AP4E1(NM_007347.4):c.2193T>C (p.P731=) - AP4E1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1969G>T r.(?) p.(Val657Phe) - VUS g.51285670G>T g.50993473G>T AP4E1(NM_001252127.1):c.1969G>T (p.V657F) - AP4E1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1977A>G r.(?) p.(Gln659=) - VUS g.51285678A>G g.50993481A>G AP4E1(NM_001252127.1):c.1977A>G (p.Q659=) - AP4E1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2204C>T r.(?) p.(Thr735Ile) - likely benign g.51289605C>T g.50997408C>T AP4E1(NM_007347.4):c.2429C>T (p.T810I) - AP4E1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2346A>G r.(?) p.(Ser782=) - likely benign g.51289747A>G g.50997550A>G AP4E1(NM_001252127.1):c.2346A>G (p.S782=) - AP4E1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2356C>T r.(?) p.(Leu786=) - likely benign g.51289757C>T g.50997560C>T AP4E1(NM_001252127.1):c.2356C>T (p.L786=) - AP4E1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2576T>C r.(?) p.(Ile859Thr) - likely benign g.51289977T>C g.50997780T>C AP4E1(NM_001252127.1):c.2576T>C (p.I859T) - AP4E1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.2579G>A r.(?) p.(Trp860Ter) - pathogenic g.51289980G>A g.50997783G>A AP4E1(NM_001252127.2):c.2579G>A (p.W860*) - AP4E1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.2708C>T r.(?) p.(Pro903Leu) - VUS g.51291297C>T g.50999100C>T AP4E1(NM_001252127.1):c.2708C>T (p.(Pro903Leu)) - AP4E1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.2840C>G r.(?) p.(Ser947Cys) - VUS g.51291429C>G g.50999232C>G - - AP4E1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.2873C>G r.(?) p.(Pro958Arg) - VUS g.51293225C>G g.51001028C>G AP4E1(NM_001252127.1):c.2873C>G (p.P958R) - AP4E1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2990T>A r.(?) p.(Leu997Gln) - VUS g.51293342T>A g.51001145T>A AP4E1(NM_001252127.1):c.2990T>A (p.L997Q) - AP4E1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3029-18A>G r.(=) p.(=) - likely benign g.51294681A>G g.51002484A>G AP4E1(NM_007347.4):c.3254-18A>G - AP4E1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3089G>A r.(?) p.(Arg1030Gln) - VUS g.51294759G>A g.51002562G>A - - AP4E1_000047 2 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs139640763 Germline - 2/2795 individuals - - - Mohammed Faruq
-/. 2 - c.3162G>A r.(?) p.(Gln1054=) - benign g.51294832G>A g.51002635G>A AP4E1(NM_001252127.1):c.3162G>A (p.Q1054=), AP4E1(NM_007347.4):c.3387G>A (p.Q1129=) - AP4E1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Rotterdam
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