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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

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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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