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Results for "Hashimoto2016"

Variant Events: 37

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
ZFHX3     P1204chr16:
72845532-72845532		GAexonicDe novononsynonymous SNVNM_001164766
NM_006885		c.C1066T
c.C3808T		p.H356Y
p.H1270Y		20.2-Hashimoto2016 E
ZFPM2     P1153chr8:
106813565-106813565		GAexonicDe novononsynonymous SNVNM_012082c.G1255Ap.E419K11.11.659E-5Hashimoto2016 E
FRRS1     P1335chr1:
100214124-100214124		GAintronicDe novo--Hashimoto2016 E
NECAP2     P1153chr1:
16778330-16778330		TCintronicDe novo--Hashimoto2016 E
SMO     P1229chr7:
128851858-128851858		CAintronicDe novo--Hashimoto2016 E
AMPH     P1225chr7:
38431556-38431556		GAexonicDe novosynonymous SNVNM_139316
NM_001635		c.C1545T
c.C1671T		p.N515N
p.N557N		1.0468.242E-6Hashimoto2016 E
DNAJC16     P1325chr1:
15888805-15888805		TCexonicDe novosynonymous SNVNM_001287811
NM_015291		c.T387C
c.T1323C		p.F129F
p.F441F		--Hashimoto2016 E
GCN1     P1194chr12:
120591701-120591701		CTexonicDe novosynonymous SNVNM_006836c.G3714Ap.A1238A-2.613E-5Hashimoto2016 E
LRP1B     P1225chr2:
141609318-141609318		GAexonicDe novosynonymous SNVNM_018557c.C4614Tp.G1538G--Hashimoto2016 E
ABCA3     P1119chr16:
2334337-2334337		CAexonicDe novostopgainNM_001089c.G3805Tp.E1269X47.0-Hashimoto2016 E
ARHGAP19     P1204chr10:
98994997-98994997		GAexonicDe novononsynonymous SNVNM_001204300
NM_001256423
NM_032900		c.C1174T
c.C1234T
c.C1261T		p.R392C
p.R412C
p.R421C		17.821.647E-5Hashimoto2016 E
CAMSAP3     P0415chr19:
7677972-7677972		GCexonicDe novononsynonymous SNVNM_020902
NM_001080429		c.G2593C
c.G2674C		p.A865P
p.A892P		5.482-Hashimoto2016 E
DDX50     P1229chr10:
70694112-70694112		CTexonicDe novononsynonymous SNVNM_024045c.C1397Tp.P466L31.0-Hashimoto2016 E
ECSIT     P1364chr19:
11618318-11618318		CGexonicDe novononsynonymous SNVNM_001142465
NM_001142464
NM_001243204
NM_016581		c.G363C
c.G856C
c.G884C
c.G1005C		p.E121D
p.V286L
p.S295T
p.E335D		3.061.648E-5Hashimoto2016 E
ENO3     P1339chr17:
4859881-4859881		CTexonicDe novostopgainNM_001193503
NM_001976
NM_053013		c.C952T
c.C1081T
c.C1081T		p.Q318X
p.Q361X
p.Q361X		37.0-Hashimoto2016 E
FAHD1     P1325chr16:
1877625-1877625		GCexonicDe novononsynonymous SNVNM_001018104
NM_001142398
NM_031208		c.G395C
c.G395C
c.G395C		p.S132T
p.S132T
p.S132T		26.1-Hashimoto2016 E
FAHD1     P1325chr16:
1877669-1877669		ACexonicDe novononsynonymous SNVNM_001018104
NM_001142398
NM_031208		c.A439C
c.A439C
c.A439C		p.K147Q
p.K147Q
p.K147Q		12.94-Hashimoto2016 E
HERC1     P0415chr15:
63927042-63927042		TAexonicDe novostopgainNM_003922c.A12460Tp.K4154X55.0-Hashimoto2016 E
ITGA10     P1229chr1:
145536118-145536118		AGexonicDe novononsynonymous SNVNM_001303041
NM_001303040
NM_003637		c.A1781G
c.A1817G
c.A2210G		p.E594G
p.E606G
p.E737G		13.51-Hashimoto2016 E
LARP1     P1119chr5:
154193454-154193454		TGexonicDe novononsynonymous SNVNM_015315c.T2858Gp.M953R14.49-Hashimoto2016 E
NUP205     P1193chr7:
135333246-135333246		GCexonicDe novononsynonymous SNVNM_015135c.G5981Cp.S1994T9.086-Hashimoto2016 E
OBSCN     P1190chr1:
228476583-228476583		GCexonicDe novononsynonymous SNVNM_001098623
NM_052843
NM_001271223		c.G10333C
c.G10333C
c.G11620C		p.V3445L
p.V3445L
p.V3874L		12.85-Hashimoto2016 E
OR6P1     P1092chr1:
158533157-158533157		GAexonicDe novononsynonymous SNVNM_001160325c.C238Tp.R80W10.61-Hashimoto2016 E
OSMR     P1092chr5:
38869177-38869177		TGexonicDe novononsynonymous SNVNM_001168355
NM_003999		c.T31G
c.T31G		p.F11V
p.F11V		12.4-Hashimoto2016 E
PCNX1     P1264chr14:
71555961-71555961		CTexonicDe novononsynonymous SNVNM_001308160
NM_014982		c.C5158T
c.C5491T		p.R1720C
p.R1831C		34.0-Hashimoto2016 E
PEAK1     P1244chr15:
77472860-77472860		GAexonicDe novononsynonymous SNVNM_024776c.C1409Tp.P470L16.44-Hashimoto2016 E
PLEKHA4     P1100chr19:
49355561-49355561		GAexonicDe novononsynonymous SNVNM_001161354
NM_020904		c.C1274T
c.C1349T		p.T425M
p.T450M		15.168.24E-6Hashimoto2016 E
POGZ     P1381chr1:
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-Hashimoto2016 E
POLR1E     P1286chr9:
37498215-37498215		CTexonicDe novononsynonymous SNVNM_022490
NM_001282766		c.C880T
c.C670T		p.R294W
p.R224W		15.272.473E-5Hashimoto2016 E
PPCS     P1466chr1:
42925473-42925473		CAexonicDe novononsynonymous SNVNM_001287510
NM_001077447
NM_001287506
NM_001287507
NM_001287508
NM_001287509
NM_024664		c.C293A
c.C293A
c.C293A
c.C194A
c.C293A
c.C293A
c.C812A		p.T98N
p.T98N
p.T98N
p.T65N
p.T98N
p.T98N
p.T271N		22.1-Hashimoto2016 E
PRKD2     P1401chr19:
47207870-47207870		CTexonicDe novononsynonymous SNVNM_001079882
NM_016457
NM_001079880
NM_001079881		c.G77A
c.G548A
c.G548A
c.G548A		p.S26N
p.S183N
p.S183N
p.S183N		16.78-Hashimoto2016 E
RPP40     P1124chr6:
4996306-4996306		TCexonicDe novononsynonymous SNVNM_001286132
NM_001286133
NM_006638		c.A703G
c.A646G
c.A772G		p.N235D
p.N216D
p.N258D		0.476-Hashimoto2016 E
SERPINB7     P1369chr18:
61471655-61471655		TCexonicDe novononsynonymous SNVNM_001261831
NM_001040147
NM_001261830
NM_003784		c.T878C
c.T929C
c.T929C
c.T929C		p.I293T
p.I310T
p.I310T
p.I310T		16.39-Hashimoto2016 E
SLC41A2     P1364chr12:
105198950-105198950		CTexonicDe novononsynonymous SNVNM_032148c.G1702Ap.D568N28.9-Hashimoto2016 E
WDR20     P1124chr14:
102675594-102675594		GAexonicDe novononsynonymous SNVNM_001242416
NM_181308
NM_001242418
NM_144574
NM_181291
NM_001242417		c.G904A
c.G904A
c.G1123A
c.G1087A
c.G1087A
c.G1180A		p.V302I
p.V302I
p.V375I
p.V363I
p.V363I
p.V394I		3.241.647E-5Hashimoto2016 E
WNK2     P1369chr9:
96069086-96069086		GCexonicDe novononsynonymous SNVNM_006648
NM_001282394		c.G6242C
c.G6353C		p.G2081A
p.G2118A		27.6-Hashimoto2016 E
YAF2     P1411chr12:
42629785-42629785		CAexonicDe novononsynonymous SNVNM_001190980c.G167Tp.G56V8.575-Hashimoto2016 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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