Full data view for gene PLK4

Information The variants shown are described using the NM_014264.4 transcript reference sequence.

53 entries on 1 page. Showing entries 1 - 53.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.17G>A r.(?) p.(Gly6Glu) Unknown - VUS g.128802306G>A g.127881151G>A PLK4(NM_014264.4):c.17G>A (p.G6E) - PLK4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.17G>A r.(?) p.(Gly6Glu) Parent #1 - VUS g.128802306G>A g.127881151G>A - - PLK4_000004 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs149003893 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.31-7T>G r.(=) p.(=) Unknown - VUS g.128802979T>G - PLK4(NM_014264.5):c.31-7T>G - PLK4_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.31-3A>G r.[=,30_31ins31-63_31-4;31-3_31-1delinsgag] p.[=,Asp11Profs*14] Both (homozygous) - pathogenic (recessive) g.128802983A>G g.127881828A>G - - PLK4_000003 - PubMed: Dincer 2017, Journal: Dincer 2017 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ connective - MCCRP2 FamPatVIII2 7-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives - F - - - - - - - 3 Bayram Toraman
+/. 1i c.31-3A>G r.spl p.? Both (homozygous) - pathogenic (recessive) g.128802983A>G g.127881828A>G - - PLK4_000003 - PubMed: Dincer 2017, Journal: Dincer 2017 - - Germline yes - - - - DNA PCR, SEQ Blood - MCPH2 FamPatVII2 PubMed: Dincer 2017, Journal: Dincer 2017 relative of FamPatVIII2 M yes Turkey - - - - - 1 Bayram Toraman
?/. - c.71C>G r.(?) p.(Ala24Gly) Unknown - VUS g.128803026C>G - PLK4(NM_014264.5):c.71C>G (p.(Ala24Gly)) - PLK4_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.162A>G r.(?) p.(Val54=) Unknown - likely benign g.128804452A>G - PLK4(NM_014264.4):c.162A>G (p.V54=), PLK4(NM_014264.5):c.162A>G (p.V54=) - PLK4_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.162A>G r.(?) p.(Val54=) Unknown - likely benign g.128804452A>G - PLK4(NM_014264.4):c.162A>G (p.V54=), PLK4(NM_014264.5):c.162A>G (p.V54=) - PLK4_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.289A>G r.(?) p.(Met97Val) Unknown - VUS g.128804660A>G - PLK4(NM_014264.4):c.289A>G (p.M97V) - PLK4_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.436C>T r.(?) p.(Arg146Cys) Unknown - VUS g.128806961C>T g.127885806C>T PLK4(NM_014264.4):c.436C>T (p.R146C) - PLK4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.442A>G r.(?) p.(Met148Val) Maternal (confirmed) - pathogenic g.128806967A>G g.127885812A>G - - PLK4_000001 - - - - Germline - - - - - DNA SEQ-NG - - MCCRP2 - - - F no Japan - - - - - 1 Makiko Tsutsumi
-?/. - c.618C>T r.(?) p.(Ile206=) Unknown - likely benign g.128807143C>T - PLK4(NM_014264.5):c.618C>T (p.I206=) - PLK4_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.800G>A r.(?) p.(Arg267Gln) Unknown - VUS g.128807325G>A g.127886170G>A - - PLK4_000035 - PubMed: Nakamura 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES INFM Pat10 PubMed: Nakamura 2017 - - - Japan - - - - - 1 Johan den Dunnen
+?/. - c.844del r.(?) p.(Ser282GlnfsTer21) Unknown - likely pathogenic g.128807369del - PLK4(NM_014264.5):c.844delT (p.S282Qfs*21) - PLK4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.847A>G r.(?) p.(Ile283Val) Unknown - likely benign g.128807372A>G g.127886217A>G PLK4(NM_001190799.1):c.751A>G (p.(Ile251Val)) - PLK4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.950C>T r.(?) p.(Pro317Leu) Unknown - VUS g.128807475C>T g.127886320C>T PLK4(NM_014264.4):c.950C>T (p.P317L) - PLK4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1192C>T r.(?) p.(Arg398Ter) Unknown - pathogenic g.128807717C>T g.127886562C>T PLK4(NM_014264.4):c.1192C>T (p.R398*) - PLK4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1199_1200insGAA r.(?) p.(His400delinsGlnAsn) Unknown - VUS g.128807724_128807725insGAA g.127886569_127886570insGAA PLK4(NM_014264.4):c.1199_1200insGAA (p.H400delinsQN) - PLK4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1299_1300insTAACTTCTTTTAACTTCTTT r.(?) p.(Lys434Ter) Unknown - pathogenic g.128807824_128807825insTAACTTCTTTTAACTTCTTT g.127886669_127886670insTAACTTCTTTTAACTTCTTT PLK4(NM_014264.4):c.1299_1300insTAACTTCTTTTAACTTCTTT (p.K434*) - PLK4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1312T>C r.(?) p.(Ser438Pro) Unknown - likely benign g.128807837T>C g.127886682T>C PLK4(NM_001190799.1):c.1216T>C (p.(Ser406Pro)) - PLK4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1364A>G r.(?) p.(Asn455Ser) Unknown - likely benign g.128808556A>G - PLK4(NM_014264.5):c.1364A>G (p.N455S) - PLK4_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1428A>T r.(?) p.(Val476=) Unknown - benign g.128808620A>T g.127887465A>T PLK4(NM_014264.4):c.1428A>T (p.V476=), PLK4(NM_014264.5):c.1428A>T (p.V476=) - PLK4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1428A>T r.(?) p.(Val476=) Unknown - likely benign g.128808620A>T - PLK4(NM_014264.4):c.1428A>T (p.V476=), PLK4(NM_014264.5):c.1428A>T (p.V476=) - PLK4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1482A>G r.(?) p.(Glu494=) Unknown - likely benign g.128811043A>G - PLK4(NM_014264.4):c.1482A>G (p.E494=) - PLK4_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1534_1536del r.(?) p.(Lys512del) Unknown - VUS g.128811095_128811097del g.127889940_127889942del PLK4(NM_001190799.1):c.1436_1438del (p.(Lys480del)) - PLK4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1556G>C r.(?) p.(Trp519Ser) Unknown - likely benign g.128811117G>C g.127889962G>C PLK4(NM_001190799.1):c.1460G>C (p.(Trp487Ser)), PLK4(NM_014264.5):c.1556G>C (p.W519S) - PLK4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1556G>C r.(?) p.(Trp519Ser) Unknown - benign g.128811117G>C - PLK4(NM_001190799.1):c.1460G>C (p.(Trp487Ser)), PLK4(NM_014264.5):c.1556G>C (p.W519S) - PLK4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1705G>T r.(?) p.(Glu569Ter) Unknown - VUS g.128811266G>T g.127890111G>T PLK4(NM_014264.4):c.1705G>T (p.E569*) - PLK4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1719_1720del r.(?) p.(Arg574GlyfsTer41) Unknown - VUS g.128811280_128811281del - PLK4(NM_014264.4):c.1719_1720delTA (p.R574Gfs*41) - PLK4_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1831-4_1831-3dup r.spl? p.? Unknown - likely benign g.128812243_128812244dup - PLK4(NM_014264.5):c.1831-4_1831-3dup - PLK4_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1831-3del r.spl? p.? Unknown - benign g.128812244del - PLK4(NM_014264.5):c.1831-3delT - PLK4_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1831-3dup r.spl? p.? Unknown - benign g.128812244dup - PLK4(NM_014264.5):c.1831-3dupT - PLK4_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1915A>G r.(?) p.(Ile639Val) Unknown - VUS g.128812331A>G - PLK4(NM_014264.4):c.1915A>G (p.I639V) - PLK4_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1935+6G>A r.(=) p.(=) Unknown - likely benign g.128812357G>A - PLK4(NM_014264.4):c.1935+6G>A - PLK4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1975C>G r.(?) p.(Leu659Val) Unknown - VUS g.128812773C>G g.127891618C>G PLK4(NM_014264.4):c.1975C>G (p.L659V) - PLK4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1992C>G r.(?) p.(Pro664=) Unknown - likely benign g.128812790C>G g.127891635C>G PLK4(NM_014264.4):c.1992C>G (p.P664=) - PLK4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2038+7G>T r.(=) p.(=) Unknown - likely benign g.128812843G>T - PLK4(NM_014264.5):c.2038+7G>T - PLK4_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2109C>A r.(?) p.(Ile703=) Unknown - likely benign g.128813590C>A - PLK4(NM_014264.5):c.2109C>A (p.I703=) - PLK4_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2188+16A>G r.(=) p.(=) Unknown - benign g.128813685A>G - PLK4(NM_014264.5):c.2188+16A>G - PLK4_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2215T>G r.(?) p.(Phe739Val) Unknown - likely benign g.128814466T>G g.127893311T>G PLK4(NM_001190799.1):c.2119T>G (p.(Phe707Val)) - PLK4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2250C>G r.(?) p.(Tyr750Ter) Unknown - VUS g.128814501C>G g.127893346C>G PLK4(NM_014264.4):c.2250C>G (p.Y750*) - PLK4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2322+1G>A r.spl? p.? Unknown - pathogenic g.128814574G>A g.127893419G>A PLK4(NM_014264.4):c.2322+1G>A, PLK4(NM_014264.5):c.2322+1G>A - PLK4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2322+1G>A r.spl? p.? Unknown - likely pathogenic g.128814574G>A - PLK4(NM_014264.4):c.2322+1G>A, PLK4(NM_014264.5):c.2322+1G>A - PLK4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.2336G>A r.(?) p.(Cys779Tyr) Paternal (confirmed) - pathogenic g.128814681G>A g.127893526G>A - - PLK4_000002 - - - - Germline - - - - - DNA SEQ-NG - - MCCRP2 - - - F no Japan - - - - - 1 Makiko Tsutsumi
?/. - c.2368G>A r.(?) p.(Glu790Lys) Unknown - VUS g.128814713G>A g.127893558G>A PLK4(NM_014264.4):c.2368G>A (p.E790K) - PLK4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2414+4A>C r.spl? p.? Unknown - likely benign g.128814763A>C - PLK4(NM_014264.5):c.2414+4A>C - PLK4_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2479C>G r.(?) p.(Pro827Ala) Unknown - likely benign g.128814953C>G - PLK4(NM_014264.4):c.2479C>G (p.P827A) - PLK4_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2483C>T r.(?) p.(Thr828Met) Unknown - likely benign g.128814957C>T - PLK4(NM_014264.5):c.2483C>T (p.T828M) - PLK4_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2490G>A r.(?) p.(Glu830=) Unknown - likely benign g.128814964G>A - PLK4(NM_014264.4):c.2490G>A (p.E830=) - PLK4_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2659C>T r.(?) p.(Leu887Phe) Unknown - VUS g.128816204C>T g.127895049C>T PLK4(NM_014264.4):c.2659C>T (p.L887F) - PLK4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2711G>A r.(?) p.(Ser904Asn) Unknown - VUS g.128817963G>A g.127896808G>A PLK4(NM_014264.4):c.2711G>A (p.S904N) - PLK4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2837A>G r.(?) p.(Asp946Gly) Unknown - likely benign g.128819620A>G g.127898465A>G PLK4(NM_001190799.1):c.2741A>G (p.(Asp914Gly)) - PLK4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2854T>G r.(?) p.(Leu952Val) Unknown - VUS g.128819637T>G g.127898482T>G PLK4(NM_014264.4):c.2854T>G (p.L952V) - PLK4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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