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Results for "Miyake2023"

Variant Events: 55

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
EP300     Miyake2023:25744chr22:
41572254-41572254
TGexonicDe novononsynonymous SNVNM_001429c.T4783Gp.F1595V16.81-Miyake2023 E
POGZ     Miyake2023:5542chr1:
151378393-151378393
CTexonicDe novononsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.G2833A
c.G2959A
c.G2932A
c.G3091A
c.G3118A
p.E945K
p.E987K
p.E978K
p.E1031K
p.E1040K
21.3-Miyake2023 E
SCN2A     Miyake2023:3129chr2:
166179778-166179779
ATAexonicDe novoframeshift deletionNM_001040143
NM_001040142
NM_021007
c.1785delT
c.1785delT
c.1785delT
p.D595fs
p.D595fs
p.D595fs
--Miyake2023 E
TRIM8     Miyake2023:7716chr10:
104416555-104416555
GGGexonicDe novoframeshift insertionNM_030912c.1100dupGp.C367fs--Miyake2023 E
SYNGAP1     Miyake2023:7544chr6:
33409439-33409439
CTexonicDe novostopgainNM_006772c.C2197Tp.Q733X40.0-Miyake2023 E
CHD7     Miyake2023:2430chr8:
61774804-61774804
GAexonicDe novononsynonymous SNVNM_001316690
NM_017780
c.G1733A
c.G7880A
p.R578Q
p.R2627Q
36.0-Miyake2023 E
ASXL3     Miyake2023:2239chr18:
31318455-31318456
GGGexonicDe novoframeshift deletionNM_030632c.1088delGp.G363fs--Miyake2023 E
CAMK2B     Miyake2023:8553chr7:
44259671-44259671
GAexonicDe novononsynonymous SNVNM_172084
NM_172083
NM_172081
NM_172079
NM_172080
NM_172082
NM_001293170
NM_172078
NM_001220
c.C1340T
c.C1430T
c.C1502T
c.C1547T
c.C1544T
c.C1469T
c.C1619T
c.C1619T
c.C1991T
p.P447L
p.P477L
p.P501L
p.P516L
p.P515L
p.P490L
p.P540L
p.P540L
p.P664L
29.6-Miyake2023 E
BRAF     Miyake2023:8553chr7:
140501350-140501350
GAexonicDe novononsynonymous SNVNM_004333c.C722Tp.T241M25.2-Miyake2023 E
SSR4     Miyake2023:8571chrX:
153062005-153062005
CTexonicDe novostopgainNM_006280
NM_001204526
NM_001204527
c.C184T
c.C217T
c.C208T
p.Q62X
p.Q73X
p.Q70X
35.0-Miyake2023 E
ATP1A3     Miyake2023:8559chr19:
42474692-42474692
GAexonicDe novononsynonymous SNVNM_001256213
NM_001256214
NM_152296
c.C2299T
c.C2305T
c.C2266T
p.R767C
p.R769C
p.R756C
20.5-Miyake2023 E
GABRB1     Miyake2023:8074chr4:
47405626-47405626
TCexonicDe novononsynonymous SNVNM_000812c.T733Cp.Y245H25.5-Miyake2023 E
MACF1     Miyake2023:7919chr1:
39917969-39917970
GTGexonicDe novoframeshift deletionNM_012090c.14384delTp.V4795fs--Miyake2023 E
TRIP12     Miyake2023:8412chr2:
230668935-230668936
AAAexonicDe novoframeshift deletionNM_001284216
NM_001284215
NM_004238
NM_001284214
c.1623delT
c.2532delT
c.2433delT
c.2577delT
p.Y541fs
p.Y844fs
p.Y811fs
p.Y859fs
--Miyake2023 E
TRIP12     Miyake2023:8251chr2:
230663998-230663998
CGsplicingDe novosplicing24.5-Miyake2023 E
PBX1     Miyake2023:9457chr1:
164769051-164769051
GCexonicDe novononsynonymous SNVNM_001204961
NM_001204963
NM_002585
c.G626C
c.G626C
c.G626C
p.S209T
p.S209T
p.S209T
34.0-Miyake2023 E
IQSEC2     Miyake2023:9442chrX:
53268427-53268427
CTexonicDe novononsynonymous SNVNM_001111125
NM_015075
c.G3065A
c.G2450A
p.R1022H
p.R817H
30.01.157E-5Miyake2023 E
LZTR1     Miyake2023:9490chr22:
21345975-21345975
CTexonicDe novononsynonymous SNVNM_006767c.C850Tp.R284C23.9-Miyake2023 E
TRIP12     Miyake2023:9484chr2:
230667043-230667043
GAexonicDe novononsynonymous SNVNM_001284216
NM_001284215
NM_004238
NM_001284214
c.C2096T
c.C3005T
c.C2906T
c.C3050T
p.T699I
p.T1002I
p.T969I
p.T1017I
4.813-Miyake2023 E
SYN1     Miyake2023:8721chrX:
47464720-47464720
CAexonicDe novostopgainNM_006950
NM_133499
c.G586T
c.G586T
p.G196X
p.G196X
32.0-Miyake2023 E
GABBR2     Miyake2023:8617chr9:
101133817-101133817
CTexonicDe novononsynonymous SNVNM_005458c.G1699Ap.A567T25.4-Miyake2023 E
PPP2R5D     Miyake2023:9429chr6:
42975003-42975003
GAexonicDe novononsynonymous SNVNM_180977
NM_001270476
NM_006245
NM_180976
c.G274A
c.G139A
c.G592A
c.G496A
p.E92K
p.E47K
p.E198K
p.E166K
36.0-Miyake2023 E
SON     Miyake2023:9284chr21:
34945653-34945653
GAexonicDe novononsynonymous SNVNM_001291412
NM_138927
c.G1009A
c.G6925A
p.G337R
p.G2309R
25.3-Miyake2023 E
NDP     Miyake2023:11204chrX:
43817716-43817716
ACsplicingMaternalsplicing18.2-Miyake2023 E
AFF2     Miyake2023:11198chrX:
148037466-148037466
CTexonicDe novononsynonymous SNVNM_001170628
NM_001169122
NM_001169124
NM_001169125
NM_001169123
NM_002025
c.C814T
c.C1792T
c.C1786T
c.C1774T
c.C1861T
c.C1891T
p.P272S
p.P598S
p.P596S
p.P592S
p.P621S
p.P631S
14.53-Miyake2023 E
ANKRD11     Miyake2023:11242chr16:
89341340-89341340
TGexonicDe novononsynonymous SNVNM_001256183
NM_013275
NM_001256182
c.A7595C
c.A7595C
c.A7595C
p.Q2532P
p.Q2532P
p.Q2532P
19.21-Miyake2023 E
HNRNPH2     Miyake2023:11210chrX:
100667398-100667398
TAexonicDe novononsynonymous SNVNM_001032393
NM_019597
c.T422A
c.T422A
p.M141K
p.M141K
12.74-Miyake2023 E
GABRG2     Miyake2023:10481chr5:
161522557-161522557
GAexonicDe novononsynonymous SNVNM_000816
NM_198903
NM_198904
c.G316A
c.G316A
c.G316A
p.A106T
p.A106T
p.A106T
14.03-Miyake2023 E
DDX3X     Miyake2023:9852chrX:
41203604-41203604
GAexonicDe novononsynonymous SNVNM_001193417
NM_001193416
NM_001356
c.G929A
c.G977A
c.G977A
p.R310H
p.R326H
p.R326H
35.0-Miyake2023 E
SMARCA4     Miyake2023:11181chr19:
11152025-11152025
CTexonicDe novononsynonymous SNVNM_001128845
NM_001128846
NM_001128847
NM_001128848
NM_003072
NM_001128844
NM_001128849
c.C4123T
c.C4123T
c.C4114T
c.C4114T
c.C4213T
c.C4213T
c.C4309T
p.R1375W
p.R1375W
p.R1372W
p.R1372W
p.R1405W
p.R1405W
p.R1437W
28.5-Miyake2023 E
GOLGA2     Miyake2023:10713chr9:
131020733-131020733
CTsplicingDe novosplicing11.99-Miyake2023 E
RALA     Miyake2023:12788chr7:
39726339-39726339
GAexonicDe novononsynonymous SNVNM_005402c.G73Ap.V25M32.0-Miyake2023 E
PHF6     Miyake2023:12255chrX:
133549201-133549206
TAAATTAexonicMaternalframeshift substitutionNM_032335c.888_893AN/A--Miyake2023 E
CHD2     Miyake2023:14573chr15:
93510727-93510727
CTexonicDe novostopgainNM_001271c.C2173Tp.Q725X47.0-Miyake2023 E
MED13L     Miyake2023:14128chr12:
116403994-116403994
GAexonicDe novononsynonymous SNVNM_015335c.C6280Tp.P2094S24.0-Miyake2023 E
ABCC8     Miyake2023:11935chr11:
17418804-17418804
CCCexonicUnknownframeshift insertionNM_000352
NM_001287174
c.3924dupG
c.3927dupG
p.L1308fs
p.L1309fs
--Miyake2023 E
FLNA     Miyake2023:11914chrX:
153580387-153580387
CTexonicDe novononsynonymous SNVNM_001456
NM_001110556
c.G6748A
c.G6772A
p.E2250K
p.E2258K
16.3-Miyake2023 E
POGZ     Miyake2023:12240chr1:
151378386-151378386
TCexonicDe novononsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.A2840G
c.A2966G
c.A2939G
c.A3098G
c.A3125G
p.Q947R
p.Q989R
p.Q980R
p.Q1033R
p.Q1042R
18.27-Miyake2023 E
ABCC8     Miyake2023:11935chr11:
17482154-17482154
GAexonicUnknownnonsynonymous SNVNM_000352
NM_001287174
c.C892T
c.C892T
p.R298C
p.R298C
21.21.0E-4Miyake2023 E
MECP2     Miyake2023:16783chrX:
153296374-153296374
GCexonicDe novononsynonymous SNVNM_001110792
NM_004992
NM_001316337
c.C941G
c.C905G
c.C626G
p.P314R
p.P302R
p.P209R
18.97-Miyake2023 E
IRF2BPL     Miyake2023:16774chr14:
77492650-77492652
GCAACGexonicDe novononframeshift substitutionNM_024496c.1484_1486CGTN/A--Miyake2023 E
PTPN11     Miyake2023:17509chr12:
112926270-112926270
CTexonicDe novononsynonymous SNVNM_002834c.C1403Tp.T468M26.78.236E-6Miyake2023 E
CDH2     Miyake2023:16791chr18:
25589713-25589713
GAexonicDe novononsynonymous SNVNM_001308176
NM_001792
c.C577T
c.C670T
p.P193S
p.P224S
33.0-Miyake2023 E
PIK3CA     Miyake2023:15285chr3:
178947865-178947865
GAexonicDe novononsynonymous SNVNM_006218c.G2740Ap.G914R33.0-Miyake2023 E
CHD2     Miyake2023:14673chr15:
93485051-93485051
GTsplicingDe novosplicing23.9-Miyake2023 E
IRF2BPL     Miyake2023:16771chr14:
77492650-77492652
GCAACGexonicDe novononframeshift substitutionNM_024496c.1484_1486CGTN/A--Miyake2023 E
MTOR     Miyake2023:16765chr1:
11316137-11316137
CTexonicDe novononsynonymous SNVNM_004958c.G617Ap.R206H20.2-Miyake2023 E
HDAC8     Miyake2023:21708chrX:
71681927-71681927
GAexonicDe novononsynonymous SNVNM_001166418
NM_018486
c.C659T
c.C932T
p.T220M
p.T311M
17.081.146E-5Miyake2023 E
MECP2     Miyake2023:21488chrX:
153296363-153296363
GAexonicDe novononsynonymous SNVNM_001110792
NM_004992
NM_001316337
c.C952T
c.C916T
c.C637T
p.R318C
p.R306C
p.R213C
21.0-Miyake2023 E
TAOK1     Miyake2023:22722chr17:
27809306-27809306
GAexonicDe novononsynonymous SNVNM_020791
NM_025142
c.G655A
c.G655A
p.A219T
p.A219T
35.0-Miyake2023 E
FOXP1     Miyake2023:22716chr3:
71026789-71026789
CTintronicDe novo--Miyake2023 E
DDX3X     Miyake2023:19016chrX:
41205762-41205762
CAexonicDe novononsynonymous SNVNM_001193417
NM_001193416
NM_001356
c.C1454A
c.C1502A
c.C1502A
p.A485E
p.A501E
p.A501E
26.9-Miyake2023 E
NAA15     Miyake2023:17677chr4:
140262084-140262085
TTTexonicDe novoframeshift deletionNM_057175c.264delTp.L88fs--Miyake2023 E
AFF2     Miyake2023:20269chrX:
148072819-148072819
GAexonicDe novononsynonymous SNVNM_001170628
NM_001169122
NM_001169124
NM_001169125
NM_001169123
NM_002025
c.G2816A
c.G3788A
c.G3788A
c.G3776A
c.G3863A
c.G3893A
p.R939H
p.R1263H
p.R1263H
p.R1259H
p.R1288H
p.R1298H
29.6-Miyake2023 E
SLC6A1     Miyake2023:19052chr3:
11059051-11059051
GTexonicDe novononsynonymous SNVNM_003042c.G154Tp.D52Y26.3-Miyake2023 E
Source Variant Information

, -

Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notesView
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