Unique variants in gene AP4E1

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

44 entries on 1 page. Showing entries 1 - 44.
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Effect     

Reported     

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     
+/? 1 ? c.(?_-1)_1091+523del - r.0 p.0 g.51048188_51240879del g.50755991_50948682del - - AP4E1_000003 - - - - Germline yes - - - - Johan den Dunnen
?/?, ./. 3 - c.-153036_1091+523del - r.? p.? 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.? g.51204274_51397374del - - - AP4E1_000005 193 kb deletion, brother heterozygous for deletion PubMed: Karaca 2015 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.-84A>G likely benign r.(?) p.(=) g.51204289A>G - AP4E1(NM_007347.4):c.165A>G (p.L55=) - AP4E1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-78G>A likely benign r.(?) p.(=) g.51204295G>A - AP4E1(NM_007347.4):c.171G>A (p.Q57=) - AP4E1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.-27+18G>A benign r.(=) p.(=) g.51204364G>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.33T>C likely benign r.(?) p.(=) g.51207680T>C - AP4E1(NM_001252127.1):c.33T>C (p.Y11=) - AP4E1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.50A>G VUS r.(?) p.(Tyr17Cys) g.51207697A>G - AP4E1(NM_007347.4):c.275A>G (p.Y92C) - AP4E1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.195+9T>C likely benign r.(=) p.(=) g.51216210T>C - AP4E1(NM_007347.4):c.420+9T>C - AP4E1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.196-20T>C likely benign r.(=) p.(=) g.51217275T>C - AP4E1(NM_007347.4):c.421-20T>C - AP4E1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.262T>C benign r.(?) p.(Cys88Arg) g.51217361T>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+1_317+4del - r.317_438del p.Glu181Glyfs*20 g.51217417_51217420del g.50925220_50925223del 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 VUS r.(?) p.(Gly164Val) g.51223015G>T - AP4E1(NM_001252127.1):c.491G>T (p.(Gly164Val)) - AP4E1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.627A>G likely benign r.(?) p.(=) g.51223151A>G - AP4E1(NM_007347.4):c.852A>G (p.L284=) - AP4E1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.664G>T VUS r.(?) p.(Asp222Tyr) g.51226840G>T - AP4E1(NM_007347.4):c.889G>T (p.D297Y) - AP4E1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.685C>T pathogenic r.(?) p.(Arg229*) g.51226861C>T - AP4E1(NM_001252127.1):c.685C>T (p.R229*) - AP4E1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.811C>A VUS r.(?) p.(Leu271Met) g.51233731C>A - AP4E1(NM_007347.4):c.1036C>A (p.L346M) - AP4E1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.811_812del ACMG: 4 r.(?) p.(Leu271Valfs*3) g.51233731_51233732del g.50941534_50941535del - - AP4E1_000004 - Trujillano et al., submitted - - Germline - - - - - Daniel Trujillano
?/. 1 - c.880A>C VUS r.(?) p.(Thr294Pro) g.51233901A>C - AP4E1(NM_007347.4):c.1105A>C (p.T369P) - AP4E1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.951+9G>A likely benign r.(=) p.(=) g.51233981G>A - AP4E1(NM_001252127.1):c.951+9G>A - AP4E1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.952-9T>C benign r.(=) p.(=) g.51240208T>C - AP4E1(NM_007347.4):c.1177-9T>C - AP4E1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1051A>C VUS r.(?) p.(Ile351Leu) g.51240316A>C - AP4E1(NM_001252127.1):c.1051A>C (p.I351L) - AP4E1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1051A>G VUS r.(?) p.(Ile351Val) g.51240316A>G - AP4E1(NM_001252127.1):c.1051A>G (p.I351V) - AP4E1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1111T>C VUS r.(?) p.(Trp371Arg) g.51242042T>C - AP4E1(NM_007347.4):c.1336T>C (p.W446R) - AP4E1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1124C>A VUS r.(?) p.(Thr375Lys) g.51242055C>A - AP4E1(NM_001252127.1):c.1124C>A (p.(Thr375Lys)) - AP4E1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/? 2 ? c.1165_1175del - r.(?) p.(Pro389Glnfs*2) g.51242096_51242106del g.50949899_50949909del 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 likely benign r.(?) p.(=) g.51242303T>C - AP4E1(NM_007347.4):c.1485T>C (p.Y495=) - AP4E1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1341C>G likely benign r.(?) p.(=) g.51250706C>G - AP4E1(NM_007347.4):c.1566C>G (p.S522=) - AP4E1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1600G>C likely benign r.(?) p.(Val534Leu) g.51250965G>C - AP4E1(NM_001252127.1):c.1600G>C (p.(Val534Leu)) - AP4E1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1700C>T VUS r.(?) p.(Pro567Leu) g.51260533C>T - AP4E1(NM_001252127.1):c.1700C>T (p.(Pro567Leu)) - AP4E1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1883T>C VUS r.(?) p.(Leu628Pro) g.51285584T>C - AP4E1(NM_001252127.1):c.1883T>C (p.L628P) - AP4E1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1968T>C likely benign r.(?) p.(=) g.51285669T>C - AP4E1(NM_007347.4):c.2193T>C (p.P731=) - AP4E1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1969G>T VUS r.(?) p.(Val657Phe) g.51285670G>T - AP4E1(NM_001252127.1):c.1969G>T (p.V657F) - AP4E1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1977A>G VUS r.(?) p.(=) g.51285678A>G - AP4E1(NM_001252127.1):c.1977A>G (p.Q659=) - AP4E1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2204C>T likely benign r.(?) p.(Thr735Ile) g.51289605C>T - AP4E1(NM_007347.4):c.2429C>T (p.T810I) - AP4E1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2356C>T likely benign r.(?) p.(=) g.51289757C>T - AP4E1(NM_001252127.1):c.2356C>T (p.L786=) - AP4E1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2576T>C likely benign r.(?) p.(Ile859Thr) g.51289977T>C - AP4E1(NM_001252127.1):c.2576T>C (p.I859T) - AP4E1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.2579G>A pathogenic r.(?) p.(Trp860*) g.51289980G>A - AP4E1(NM_001252127.2):c.2579G>A (p.W860*) - AP4E1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2708C>T VUS r.(?) p.(Pro903Leu) g.51291297C>T - AP4E1(NM_001252127.1):c.2708C>T (p.(Pro903Leu)) - AP4E1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2840C>G VUS r.(?) p.(Ser947Cys) g.51291429C>G - - - AP4E1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2873C>G VUS r.(?) p.(Pro958Arg) g.51293225C>G - AP4E1(NM_001252127.1):c.2873C>G (p.P958R) - AP4E1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2990T>A VUS r.(?) p.(Leu997Gln) g.51293342T>A - AP4E1(NM_001252127.1):c.2990T>A (p.L997Q) - AP4E1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.3029-18A>G likely benign r.(=) p.(=) g.51294681A>G - AP4E1(NM_007347.4):c.3254-18A>G - AP4E1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.3162G>A benign r.(?) p.(=) g.51294832G>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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