Unique variants in gene PALB2

Information The variants shown are described using the NM_024675.3 transcript reference sequence.

90 entries on 1 page. Showing entries 1 - 90.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     
?/? 2 - c.13C>T r.(?) p.(Pro5Ser) g.23652466G>A - PALB2_000007 rs377085677 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.48+39C>A r.(=) p.(=) g.23652392G>T - PALB2_000063 - - Germline - - - - Despoina Kalfakakou
-?/-? 3 - c.53A>G r.(?) p.(Lys18Arg) g.23649446T>C - PALB2_000021 rs138789658 - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.84C>T r.(=) p.(=) g.23649415G>A - PALB2_000020 rs761533286 - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.93dupA r.(?) p.(Leu32Thrfs*11) g.23649406dupT - PALB2_000077 rs864622498 - Germline ? - - - Despoina Kalfakakou
?/? 1 - c.109C>T r.(?) p.(Arg37Cys) g.23649273G>A - PALB2_000061 rs200048921 - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.123del r.(?) p.(Glu42Lysfs*11) g.23649259del - PALB2_000076 - - Germline ? - - - Despoina Kalfakakou
-?/-? 1 - c.351T>C r.(=) p.(=) g.23647516A>G - PALB2_000043 rs763330757 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.445A>C r.(?) p.(Lys149Gln) g.23647422T>G - PALB2_000067 rs770680919 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.481G>C r.(?) p.(Asp161His) g.23647386C>G - PALB2_000019 rs769841151 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.721A>G r.(?) p.(Asn241Asp) g.23647146T>C - PALB2_000054 rs113217267 - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.768C>T r.(=) p.(=) g.23647099G>A - PALB2_000080 rs45487491 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.814G>A r.(?) p.(Glu272Lys) g.23647053C>T - PALB2_000045 rs515726127 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.833T>A r.(?) p.(Leu278Gln) g.23647034A>T - PALB2_000066 rs200843485 - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.834A>T r.(=) p.(=) g.23647033T>A - PALB2_000065 rs199919863 - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.882A>G r.(=) p.(=) g.23646985T>C - PALB2_000018 rs1415955458 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.1001A>G r.(?) p.(Tyr334Cys) g.23646866T>C - PALB2_000017 rs200620434 - Germline - - - - Despoina Kalfakakou
./. 1 - c.1010T>C r.(?) p.(Leu337Ser) g.23646857A>G - PALB2_000086 rs45494092 - - - - - - Stevi Xera
?/? 2 - c.1123C>A r.(?) p.(Leu375Ile) g.23646744G>T - PALB2_000016 rs373298267 - Germline - - - - Despoina Kalfakakou
+/+ 4 - c.1140_1143del r.(?) p.(Ser380Argfs*43) g.23646724_23646727del - PALB2_000051 rs1257545151 - Germline ? - - - Despoina Kalfakakou
-/- 1 - c.1194G>A r.(=) p.(=) g.23646673C>T - PALB2_000062 rs61755173 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1241G>A r.(?) p.(Arg414Gln) g.23646626C>T - PALB2_000015 rs749461008 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1317dupG r.(?) p.Phe440Valfs*2 g.23646550dupG - PALB2_000089 - - Germline - - - - Stevi Xera
./. 1 - c.1317_1318insG r.(?) p.(Phe440Valfs*2) g.23646549_23646550insC - PALB2_000090 - - - - - - - Stevi Xera
?/? 1 - c.1408A>G r.(?) p.(Thr470Ala) g.23646459T>C - PALB2_000056 rs150636811 - Germline - - - - Despoina Kalfakakou
-/- 3 - c.1470C>T r.(=) p.(=) g.23646397G>A - PALB2_000039 rs45612837 - Germline - - - - Despoina Kalfakakou
?/? 3 - c.1544A>G r.(?) p.(Lys515Arg) g.23646323T>C - PALB2_000014 rs515726072 - Germline - - - - Despoina Kalfakakou
-/- 9 - c.1572A>G r.(=) p.(=) g.23646295T>C - PALB2_000006 rs45472400 - Germline - - - - Despoina Kalfakakou
+/+ 2 - c.1591_1600del r.(?) p.(Pro532Alafs*26) g.23646267_23646276del - PALB2_000073 rs587776414 - Germline ? - - - Despoina Kalfakakou
-/- 1 - c.1606C>T r.(=) p.(=) g.23646261G>A - PALB2_000055 rs151162255 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1652A>G r.(?) p.(Tyr551Cys) g.23646215T>C - PALB2_000011 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1684+6del r.(=) p.(=) g.23646177del - PALB2_000071 rs1555461147 - Germline - - - - Despoina Kalfakakou
-?/-? 3 - c.1684+39_1684+41del r.(=) p.(=) g.23646142_23646144del - PALB2_000013 rs368593832 - Germline - - - - Despoina Kalfakakou
-?/-? 21 - c.1684+41_1684+42insTGA r.(=) p.(=) g.23646141_23646142insTCA - PALB2_000005 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.1743A>G r.(=) p.(=) g.23641732T>C - PALB2_000032 rs180177105 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1767G>A r.(=) p.(=) g.23641708C>T - PALB2_000047 rs769849072 - Germline - - - - Despoina Kalfakakou
-/- 1 - c.1810C>T r.(=) p.(=) g.23641665G>A - PALB2_000068 rs144015319 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1898A>G r.(?) p.(Lys633Arg) g.23641577T>C - PALB2_000060 rs1567218554 - Germline - - - - Despoina Kalfakakou
?/? 3 - c.1939C>T r.(?) p.(His647Tyr) g.23641536G>A - PALB2_000050 rs1555460583 - Germline ? - - - Despoina Kalfakakou
-?/-? 1 - c.2031T>C r.(=) p.(=) g.23641444A>G - PALB2_000038 rs864622756 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.2067G>A r.(=) p.(=) g.23641408C>T - PALB2_000069 rs371149159 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2087C>T r.(?) p.(Thr696Met) g.23641388G>A - PALB2_000081 rs587780820 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.2135C>T r.(?) p.(Ala712Val) g.23641340G>A - PALB2_000053 rs141458731 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.2136G>A r.(=) p.(=) g.23641339C>T - PALB2_000058 rs905951607 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2188A>G r.(?) p.(Ile730Val) g.23641287T>C - PALB2_000028 rs1060502735 - Germline - - - - Despoina Kalfakakou
+/+ 26 - c.2257C>T r.(?) p.(Arg753*) g.23641218G>A [Vagena et al. 2019] PALB2_000012 rs180177110 - Germline ? - - Yes Despoina Kalfakakou
?/? 3 - c.2379C>T r.(=) p.(=) g.23641096G>A - PALB2_000031 rs377626805 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.2431C>T r.(?) p.(Pro811Ser) g.23641044G>A - PALB2_000030 rs866520250 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.2505C>T r.(=) p.(=) g.23640970G>A - PALB2_000035 rs756502783 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2506G>A r.(?) p.(Val836Ile) g.23640969C>T - PALB2_000070 rs536644825 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.2508C>G r.(=) p.(=) g.23640967G>C - PALB2_000049 rs786203603 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2509G>C r.(?) p.(Glu837Gln) g.23640966C>G - PALB2_000079 rs587778587 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.2514+20_2514+21del r.(=) p.(=) g.23640940_23640941del - PALB2_000083 rs750567675 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2515-46A>G r.(=) p.(=) g.23640642T>C - PALB2_000046 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.2515-39A>G r.(=) p.(=) g.23640635T>C - PALB2_000037 rs372998520 - Germline - - - - Despoina Kalfakakou
-?/-? 22 - c.2587-38C>G r.(=) p.(=) g.23637756G>C - PALB2_000004 rs180177119 - Germline - - - - Despoina Kalfakakou
-/- 15 - c.2590C>T r.(?) p.(Pro864Ser) g.23637715G>A - PALB2_000027 rs45568339 - Germline - - - - Despoina Kalfakakou
-/- 1 - c.2607C>T r.(=) p.(=) g.23637698G>A - PALB2_000064 rs45542234 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2612A>G r.(?) p.(Asp871Gly) g.23637693T>C - PALB2_000036 rs515726090 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2656T>C r.(?) p.(Cys886Arg) g.23637649A>G - PALB2_000026 rs1555459977 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2720A>G r.(?) p.(Glu907Gly) g.23637585T>C - PALB2_000084 rs45504298 - Germline - - - - Despoina Kalfakakou
+/+ 11 - c.2747_2748+4del r.spl? p.? g.23637553_23637558del - PALB2_000025 rs786203892 - Germline ? - - - Despoina Kalfakakou
?/? 1 - c.2749-50del r.(=) p.(=) g.23635465del - PALB2_000059 - - Germline - - - - Despoina Kalfakakou
?/? 9 - c.2792T>G r.(?) p.(Leu931Arg), p.Leu931Arg g.23635372A>C - PALB2_000003 rs773831304 - Germline ?, yes - - - Despoina Kalfakakou
-/- 16 - c.2794G>A r.(?) p.(Val932Met) g.23635370C>T - PALB2_000002 rs45624036 - Germline - - - - Despoina Kalfakakou
-?/-? 3 - c.2816T>G r.(?) p.(Leu939Trp) g.23635348A>C - PALB2_000048 rs45478192 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.2834+18A>T r.(=) p.(=) g.23635312T>A - PALB2_000041 rs114491776 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2849C>T r.(?) p.(Ser950Phe) g.23634437G>A - PALB2_000029 rs876659160 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2869A>C r.(?) p.(Lys957Gln) g.23634417T>G - PALB2_000001 rs515726103 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.2949C>T r.(=) p.(=) g.23634337G>A - PALB2_000057 rs1250153779 - Germline - - - - Despoina Kalfakakou
./. 4 - c.2993G>A r.(?) p.(Gly998Glu) g.23634293C>T - PALB2_000088 rs45551636 - - - - - - Stevi Xera
-?/-? 27 - c.2996+17T>C r.(=) p.(=) g.23634273A>G - PALB2_000009 rs180177128 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.3024C>T r.(=) p.(=) g.23632772G>A - PALB2_000034 rs180177130 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.3113+3del r.spl? p.? g.23632680del - PALB2_000078 - - Germline ? - - - Despoina Kalfakakou
?/? 1 - c.3113+34T>C r.(=) p.(=) g.23632649A>G - PALB2_000040 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.3114-3A>G r.spl? p.? g.23625415T>C - PALB2_000072 rs1060502784 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.3202-17T>G r.(=) p.(=) g.23619350A>C - PALB2_000044 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.3217G>T r.(?) p.(Val1073Phe) g.23619318C>A - PALB2_000085 rs1555458226 - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.3255_3256insG r.(?) p.(Arg1086Alafs*11) g.23619279_23619280insC - PALB2_000008 - - Germline - - - - Despoina Kalfakakou
+/+ 6 - c.3256C>T r.(?) p.(Arg1086*) g.23619279G>A - PALB2_000024 rs587776527 - Germline ? - - - Despoina Kalfakakou
?/? 1 - c.3278T>C r.(?) p.(Ile1093Thr) g.23619257A>G - PALB2_000033 rs45616636 - Germline - - - - Despoina Kalfakakou
?/? 3 - c.3296C>G r.(?) p.(Thr1099Arg) g.23619239G>C - PALB2_000023 rs142132127 - Germline - - - - Despoina Kalfakakou
./., ?/? 4 - c.3340C>T r.(?) p.(Gln1114*), p.Gln1114Ter g.23619195C>T, g.23619195G>A - PALB2_000087 rs1567206756 - Germline - - - - Stevi Xera
?/? 3 - c.3351-41G>A r.(=) p.(=) g.23615031C>T - PALB2_000010 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.3366C>T r.(=) p.(=) g.23614975G>A - PALB2_000082 rs373783514 - Germline - - - - Despoina Kalfakakou
+/+ 2 - c.3426dupA r.(?) p.(Leu1143Thrfs*14) g.23614915dupT - PALB2_000074 rs587776425 - Germline ? - - - Despoina Kalfakakou
-?/-? 14 - c.3428T>A r.(?) p.(Leu1143His) g.23614913A>T - PALB2_000022 rs62625284 - Germline ? - - - Despoina Kalfakakou
-?/-? 1 - c.3432C>T r.(=) p.(=) g.23614909G>A - PALB2_000042 rs748363227 - Germline - - - - Despoina Kalfakakou
-?/-?, ./. 2 - c.3447C>T r.(=) p.(=) g.23614894G>A - PALB2_000052 rs1555457863 - Germline - - - - Despoina Kalfakakou, Stevi Xera
?/? 3 - c.3494C>T r.(?) p.(Ser1165Leu) g.23614847G>A - PALB2_000075 rs773829275 - Germline ? - - - Despoina Kalfakakou
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