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Results for "Viggiano2024"

Variant Events: 80

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
MRPL51     Viggiano2024:1.3chr12:
6601475-6601475		GAexonicMaternalnonsynonymous SNVNM_016497c.C349Tp.L117F26.90.0011Viggiano2024 GE
PLXNB1     Viggiano2024:116.4chr3:
48448283-48448283		TGexonicPaternalnonsynonymous SNVNM_001130082
NM_002673		c.A6175C
c.A6175C		p.T2059P
p.T2059P		11.38-Viggiano2024 GE
PLXNB1     Viggiano2024:116.4chr3:
48454306-48454306		CTexonicMaternalnonsynonymous SNVNM_001130082
NM_002673		c.G4699A
c.G4699A		p.D1567N
p.D1567N		33.07.0E-4Viggiano2024 GE
PCBP1     Viggiano2024:99.3chr2:
70315126-70315126		AGexonicMaternalnonsynonymous SNVNM_006196c.A251Gp.N84S0.2288.0E-4Viggiano2024 GE
PAX7     Viggiano2024:91.3chr1:
19018364-19018364		GAexonicMaternalnonsynonymous SNVNM_001135254
NM_002584
NM_013945		c.G703A
c.G703A
c.G697A		p.A235T
p.A235T
p.A233T		35.06.969E-5Viggiano2024 GE
PHKA2     Viggiano2024:66.3chrX:
18959726-18959726		ACexonicMaternalnonsynonymous SNVNM_000292c.T785Gp.I262S18.962.0E-4Viggiano2024 GE
WWC3     Viggiano2024:69.3chrX:
10035333-10035333		CGexonicMaternalnonsynonymous SNVNM_015691c.C23Gp.T8S23.71.471E-5Viggiano2024 GE
DSCAM     Viggiano2024:120.4chr21:
41561045-41561045		CTexonicPaternalnonsynonymous SNVNM_001271534
NM_001389		c.G2477A
c.G2477A		p.R826Q
p.R826Q		16.739.0E-4Viggiano2024 GE
DSCAM     Viggiano2024:120.4chr21:
41741063-41741063		CAexonicMaternalnonsynonymous SNVNM_001271534
NM_001389		c.G618T
c.G618T		p.E206D
p.E206D		20.3-Viggiano2024 GE
PRR12     Viggiano2024:53.3chr19:
50100192-50100192		GAexonicMaternalnonsynonymous SNVNM_020719c.G2600Ap.R867H10.410.0036Viggiano2024 GE
PRR12     Viggiano2024:53.3chr19:
50099103-50099103		GCexonicPaternalnonsynonymous SNVNM_020719c.G1511Cp.G504A10.994.79E-5Viggiano2024 GE
DYNC1H1     Viggiano2024:122.3chr14:
102455175-102455175		GCexonicMaternalnonsynonymous SNVNM_001376c.G2854Cp.E952Q16.28-Viggiano2024 GE
DYNC1H1     Viggiano2024:122.3chr14:
102482713-102482713		TCexonicUnknown, De novononsynonymous SNVNM_001376c.T7501Cp.S2501P31.0-Viggiano2024 GE
Viggiano2024 GE
LAS1L     Viggiano2024:121.4chrX:
64738151-64738151		GCexonicMaternalnonsynonymous SNVNM_001170650
NM_001170649
NM_031206		c.C1466G
c.C1592G
c.C1643G		p.S489C
p.S531C
p.S548C		12.25-Viggiano2024 GE
MAGEH1     Viggiano2024:92.3chrX:
55479201-55479201		CTexonicMaternalnonsynonymous SNVNM_014061c.C394Tp.P132S13.87-Viggiano2024 GE
CLCN5     Viggiano2024:119.3chrX:
49851058-49851058		GAexonicMaternalnonsynonymous SNVNM_000084
NM_001282163
NM_001127898
NM_001127899		c.G878A
c.G938A
c.G1088A
c.G1088A		p.R293H
p.R313H
p.R363H
p.R363H		27.7-Viggiano2024 GE
WDR13     Viggiano2024:15.4chrX:
48460232-48460232		GTexonicMaternalnonsynonymous SNVNM_001166426
NM_017883		c.G616T
c.G892T		p.G206W
p.G298W		25.62.0E-4Viggiano2024 GE
CFP     Viggiano2024:53.3chrX:
47485500-47485500		GAexonicMaternalnonsynonymous SNVNM_001145252
NM_002621		c.C1201T
c.C1201T		p.R401C
p.R401C		15.26-Viggiano2024 GE
KDM6A     Viggiano2024:118.3chrX:
44910959-44910959		ATexonicMaternalnonsynonymous SNVNM_001291415
NM_001291416
NM_001291417
NM_001291418
NM_021140		c.A660T
c.A660T
c.A660T
c.A660T
c.A660T		p.K220N
p.K220N
p.K220N
p.K220N
p.K220N		13.95-Viggiano2024 GE
NYX     Viggiano2024:51.3chrX:
41333319-41333319		CGexonicMaternalnonsynonymous SNVNM_022567c.C613Gp.L205V13.43-Viggiano2024 GE
KLHL34     Viggiano2024:114.3chrX:
21674109-21674109		CTexonicMaternalnonsynonymous SNVNM_153270c.G1798Ap.D600N20.51.428E-5Viggiano2024 GE
AMMECR1     Viggiano2024:81.3chrX:
109560855-109560855		GAexonicMaternalnonsynonymous SNVNM_001025580
NM_015365
NM_001171689		c.C445T
c.C445T
c.C76T		p.R149W
p.R149W
p.R26W		13.94-Viggiano2024 GE
ACSL4     Viggiano2024:9.3chrX:
108908714-108908714		TCexonicMaternalnonsynonymous SNVNM_004458
NM_022977		c.A1325G
c.A1448G		p.Y442C
p.Y483C		14.215.0E-4Viggiano2024 GE
MORC4     Viggiano2024:105.3 Complex Event; expand row to view variants  Maternalnonsynonymous SNVNM_001085354
NM_024657
NM_001085354
NM_024657		c.C343A
c.C343A
c.C342G
c.C342G		p.Q115K
p.Q115K
p.S114R
p.S114R		19.528.187E-5Viggiano2024 GE
Viggiano2024 GE
CLDN2     Viggiano2024:39.3chrX:
106171514-106171514		TCexonicMaternalnonsynonymous SNVNM_001171092
NM_001171095
NM_020384		c.T56C
c.T56C
c.T56C		p.L19S
p.L19S
p.L19S		17.742.0E-4Viggiano2024 GE
IL1RAPL2     Viggiano2024:91.5chrX:
105011509-105011509		AGexonicMaternalnonsynonymous SNVNM_017416c.A1916Gp.H639R18.122.282E-5Viggiano2024 GE
IL1RAPL2     Viggiano2024:91.3chrX:
105011509-105011509		AGexonicMaternalnonsynonymous SNVNM_017416c.A1916Gp.H639R18.122.282E-5Viggiano2024 GE
FAM155B     Viggiano2024:34.3chrX:
68749536-68749536		TCexonicMaternalnonsynonymous SNVNM_015686c.T1156Cp.F386L4.1982.618E-5Viggiano2024 GE
MSN     Viggiano2024:92.3chrX:
64949513-64949513		GAexonicMaternalnonsynonymous SNVNM_002444c.G406Ap.D136N35.02.427E-5Viggiano2024 GE
IDH3G     Viggiano2024:92.4chrX:
153051418-153051418		GAexonicUnknownnonsynonymous SNVNM_004135c.C1091Tp.P364L14.62-Viggiano2024 GE
ABCD1     Viggiano2024:44.3chrX:
152990771-152990771		GAexonicMaternalnonsynonymous SNVNM_000033c.G50Ap.R17H16.57-Viggiano2024 GE
ATP11C     Viggiano2024:47.3chrX:
138884401-138884401		ACexonicMaternalnonsynonymous SNVNM_001010986
NM_173694		c.T662G
c.T662G		p.L221R
p.L221R		23.61.141E-5Viggiano2024 GE
INTS6L     Viggiano2024:21.3chrX:
134685926-134685926		GAexonicMaternalnonsynonymous SNVNM_182540c.G914Ap.R305Q33.0-Viggiano2024 GE
PHF6     Viggiano2024:39.3chrX:
133547614-133547614		ATexonicMaternalnonsynonymous SNVNM_001015877
NM_032335
NM_032458		c.A512T
c.A515T
c.A512T		p.N171I
p.N172I
p.N171I		4.798-Viggiano2024 GE
SASH3     Viggiano2024:5.3chrX:
128927724-128927724		GCexonicMaternalnonsynonymous SNVNM_018990c.G1059Cp.E353D18.17-Viggiano2024 GE
SASH3     Viggiano2024:23.3chrX:
128922011-128922011		GAexonicMaternalnonsynonymous SNVNM_018990c.G118Ap.V40M16.081.144E-5Viggiano2024 GE
OCRL     Viggiano2024:56.4chrX:
128699804-128699804		GAexonicMaternalnonsynonymous SNVNM_000276
NM_001587		c.G1300A
c.G1300A		p.E434K
p.E434K		15.32-Viggiano2024 GE
RASAL2     Viggiano2024:19.3chr1:
178426987-178426987		CTexonicDe novostopgainNM_004841
NM_170692		c.C2137T
c.C2560T		p.Q713X
p.Q854X		38.0-Viggiano2024 GE
RAP1A     Viggiano2024:69.3chr1:
112237978-112237978		CTexonicDe novostopgainNM_001291896
NM_002884
NM_001010935		c.C73T
c.C73T
c.C73T		p.Q25X
p.Q25X
p.Q25X		38.0-Viggiano2024 GE
BRCC3     Viggiano2024:16.4chrX:
154305473-154305473		AGexonicMaternalnonsynonymous SNVNM_001018055
NM_001242640
NM_024332		c.A224G
c.A227G
c.A224G		p.H75R
p.H76R
p.H75R		15.22-Viggiano2024 GE
BRCC3     Viggiano2024:16.3chrX:
154305473-154305473		AGexonicMaternalnonsynonymous SNVNM_001018055
NM_001242640
NM_024332		c.A224G
c.A227G
c.A224G		p.H75R
p.H76R
p.H75R		15.22-Viggiano2024 GE
FUNDC2     Viggiano2024:20.3chrX:
154274837-154274837		GAexonicMaternalnonsynonymous SNVNM_023934c.G338Ap.G113E16.93-Viggiano2024 GE
GDI1     Viggiano2024:39.3chrX:
153670497-153670497		CTexonicMaternalnonsynonymous SNVNM_001493c.C1031Tp.A344V19.91-Viggiano2024 GE
HCFC1     Viggiano2024:53.3chrX:
153217101-153217101		GAexonicMaternalnonsynonymous SNVNM_005334c.C5318Tp.A1773V26.3-Viggiano2024 GE
AVPR2     Viggiano2024:51.3chrX:
153171303-153171303		GAexonicMaternalnonsynonymous SNVNM_000054
NM_001146151		c.G343A
c.G343A		p.V115M
p.V115M		15.022.308E-5Viggiano2024 GE
SLC9A1     Viggiano2024:98.3chr1:
27434249-27434249		TCexonicDe novononsynonymous SNVNM_003047c.A1172Gp.E391G33.0-Viggiano2024 GE
SHANK3     Viggiano2024:29.3chr22:
51169229-51169229		CAexonicDe novostopgainNM_033517c.C4643Ap.S1548X44.0-Viggiano2024 GE
SHANK3     Viggiano2024:123.3chr22:
51158686-51158686		GTexonicDe novostopgainNM_033517c.G2383Tp.E795X40.0-Viggiano2024 GE
IRX5     Viggiano2024:102.3chr16:
54965138-54965138		CTexonicDe novostopgainNM_001252197
NM_005853		c.C28T
c.C28T		p.Q10X
p.Q10X		36.0-Viggiano2024 GE
BRSK2     Viggiano2024:32.3chr11:
1475788-1475790		GACGexonicDe novoframeshift deletionNM_001256627
NM_001256629
NM_001256630
NM_001282218
NM_003957		c.1619_1620del
c.1619_1620del
c.1757_1758del
c.1439_1440del
c.1619_1620del		p.D540fs
p.D540fs
p.D586fs
p.D480fs
p.D540fs		--Viggiano2024 GE
UBR5     Viggiano2024:110.3chr8:
103277487-103277488		TGTexonicDe novoframeshift deletionNM_001282873
NM_015902		c.7438delC
c.7441delC		p.H2480fs
p.H2481fs		--Viggiano2024 GE
SCN2A     Viggiano2024:113.4chr2:
166231402-166231402		CTexonicDe novostopgainNM_001040143
NM_001040142
NM_021007		c.C4180T
c.C4180T
c.C4180T		p.Q1394X
p.Q1394X
p.Q1394X		42.0-Viggiano2024 GE
SCN3A     Viggiano2024:40.3chr2:
165947775-165947775		GAexonicDe novostopgainNM_001081676
NM_001081677
NM_006922		c.C4741T
c.C4741T
c.C4888T		p.R1581X
p.R1581X
p.R1630X		45.0-Viggiano2024 GE
AGPAT3     Viggiano2024:17.3chr21:
45390559-45390559		GAexonicDe novononsynonymous SNVNM_001037553
NM_020132		c.G536A
c.G536A		p.R179H
p.R179H		25.8-Viggiano2024 GE
NFIX     Viggiano2024:81.3chr19:
13136031-13136031		TCexonicDe novononsynonymous SNVNM_001271043
NM_001271044
NM_002501		c.T248C
c.T200C
c.T224C		p.L83P
p.L67P
p.L75P		19.68-Viggiano2024 GE
RAB11B     Viggiano2024:52.3chr19:
8464804-8464804		GAexonicDe novononsynonymous SNVNM_004218c.G98Ap.R33H33.0-Viggiano2024 GE
MGAT5B     Viggiano2024:15.3chr17:
74922698-74922698		GAexonicDe novononsynonymous SNVNM_198955
NM_001199172
NM_144677		c.G1210A
c.G1177A
c.G1177A		p.D404N
p.D393N
p.D393N		34.0-Viggiano2024 GE
RAB8B     Viggiano2024:85.3chr15:
63541885-63541885		CTexonicDe novononsynonymous SNVNM_016530c.C227Tp.A76V27.2-Viggiano2024 GE
PSMC3     Viggiano2024:106.3chr11:
47440696-47440696		CTexonicDe novononsynonymous SNVNM_002804c.G1180Ap.A394T35.0-Viggiano2024 GE
BRSK2     Viggiano2024:14.4chr11:
1463778-1463778		GAexonicDe novononsynonymous SNVNM_001256627
NM_001256629
NM_001256630
NM_001282218
NM_003957		c.G472A
c.G472A
c.G610A
c.G292A
c.G472A		p.A158T
p.A158T
p.A204T
p.A98T
p.A158T		28.2-Viggiano2024 GE
YME1L1     Viggiano2024:117.3chr10:
27403476-27403476		CTexonicDe novononsynonymous SNVNM_001253866
NM_014263
NM_139312		c.G1882A
c.G1981A
c.G2152A		p.E628K
p.E661K
p.E718K		22.2-Viggiano2024 GE
TSC1     Viggiano2024:100.3chr9:
135779816-135779816		CAexonicDe novononsynonymous SNVNM_001162427
NM_000368
NM_001162426		c.G1870T
c.G2023T
c.G2020T		p.D624Y
p.D675Y
p.D674Y		26.5-Viggiano2024 GE
CLVS2     Viggiano2024:44.3chr6:
123319064-123319064		CGexonicDe novononsynonymous SNVNM_001010852c.C142Gp.R48G16.95-Viggiano2024 GE
EIF4A2     Viggiano2024:110.4chr3:
186504390-186504390		AGexonicDe novononsynonymous SNVNM_001967c.A727Gp.T243A18.62-Viggiano2024 GE
D2HGDH     Viggiano2024:87.3chr2:
242681875-242681875		GAexonicDe novononsynonymous SNVNM_152783c.G376Ap.V126M22.19.827E-6Viggiano2024 GE
HECW2     Viggiano2024:68.3chr2:
197182006-197182006		AGexonicDe novononsynonymous SNVNM_001304840
NM_020760		c.T1358C
c.T2426C		p.L453P
p.L809P		27.6-Viggiano2024 GE
KTI12     Viggiano2024:16.4chr1:
52499258-52499258		CTexonicDe novononsynonymous SNVNM_138417c.G176Ap.R59H27.2-Viggiano2024 GE
KDF1     Viggiano2024:81.3chr1:
27277229-27277229		GAexonicDe novononsynonymous SNVNM_152365c.C1058Tp.S353F21.4-Viggiano2024 GE
MGAT3     Viggiano2024:5.3chr22:
39884755-39884755		CTexonicDe novononsynonymous SNVNM_001098270
NM_002409		c.C1403T
c.C1403T		p.T468M
p.T468M		27.4-Viggiano2024 GE
TMEM94     Viggiano2024:101.3chr17:
73492511-73492511		CTexonicDe novononsynonymous SNVNM_014738c.C3202Tp.R1068C15.138.349E-6Viggiano2024 GE
NEURL4     Viggiano2024:115.3chr17:
7227224-7227224		CTexonicDe novononsynonymous SNVNM_001005408
NM_032442		c.G2170A
c.G2170A		p.G724S
p.G724S		36.08.312E-6Viggiano2024 GE
PAFAH1B1     Viggiano2024:15.4chr17:
2573488-2573488		GAexonicDe novononsynonymous SNVNM_000430c.G431Ap.R144Q27.2-Viggiano2024 GE
RCCD1     Viggiano2024:117.4chr15:
91500595-91500595		CAexonicDe novononsynonymous SNVNM_001017919
NM_033544		c.C419A
c.C419A		p.A140D
p.A140D		13.93-Viggiano2024 GE
RBM25     Viggiano2024:60.3chr14:
73570084-73570084		GAexonicDe novononsynonymous SNVNM_021239c.G1052Ap.R351H17.481.183E-5Viggiano2024 GE
KBTBD7     Viggiano2024:40.4chr13:
41766545-41766545		GAexonicDe novononsynonymous SNVNM_032138c.C1849Tp.R617C15.058.237E-6Viggiano2024 GE
TM9SF3     Viggiano2024:12.5chr10:
98311020-98311020		AGexonicDe novononsynonymous SNVNM_020123c.T941Cp.I314T16.34-Viggiano2024 GE
HECTD2     Viggiano2024:30.3chr10:
93242754-93242754		GAexonicDe novononsynonymous SNVNM_001284274
NM_182765		c.G742A
c.G742A		p.V248I
p.V248I		20.4-Viggiano2024 GE
A4GALT     Viggiano2024:90.3chr22:
43089396-43089396		CTexonicDe novononsynonymous SNVNM_017436c.G562Ap.G188S28.58.352E-6Viggiano2024 GE
PTPRT     Viggiano2024:72.3chr20:
41306583-41306583		CTexonicDe novononsynonymous SNVNM_007050
NM_133170		c.G1076A
c.G1076A		p.R359Q
p.R359Q		17.118.281E-6Viggiano2024 GE
MYH2     Viggiano2024:77.3chr17:
10432293-10432293		CTexonicDe novononsynonymous SNVNM_001100112
NM_017534		c.G3458A
c.G3458A		p.S1153N
p.S1153N		25.1-Viggiano2024 GE
Source Variant Information

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Paper alias:

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Paper Information
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Authors
Technology
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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.
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