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Results for "D’Gama2015"

Variant Events: 34

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
ADNP     D’Gama2015:797chr20:
49507970-49507970		CAexonicUnknownnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.G3281T
c.G3281T
c.G3281T
c.G3281T		p.G1094V
p.G1094V
p.G1094V
p.G1094V		16.38.633E-6D’Gama2015 T
SCN2A     D’Gama2015:4849chr2:
166183366-166183366		CAexonicUnknownnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C2021A
c.C2021A
c.C2021A		p.T674K
p.T674K
p.T674K		16.28-D’Gama2015 T
ATP10A     D’Gama2015:340chr15:
26026198-26026198		GAexonicUnknownnonsynonymous SNVNM_024490c.C622Tp.R208W19.396.591E-5D’Gama2015 T
CACNA1C     AN16641chr12:
2717736-2717736		GAexonicUnknownnonsynonymous SNVNM_000719
NM_001129829
NM_001129830
NM_001129831
NM_001129833
NM_001129834
NM_001129835
NM_001129836
NM_001129837
NM_001129838
NM_001129839
NM_001129840
NM_001129841
NM_001129842
NM_001129843
NM_001129844
NM_001129846
NM_001167623
NM_001167624
NM_001167625
NM_001129827
NM_001129832
NM_199460		c.G3416A
c.G3416A
c.G3416A
c.G3416A
c.G3416A
c.G3416A
c.G3416A
c.G3416A
c.G3416A
c.G3416A
c.G3416A
c.G3416A
c.G3416A
c.G3416A
c.G3416A
c.G3407A
c.G3416A
c.G3416A
c.G3416A
c.G3416A
c.G3476A
c.G3476A
c.G3476A		p.R1139H
p.R1139H
p.R1139H
p.R1139H
p.R1139H
p.R1139H
p.R1139H
p.R1139H
p.R1139H
p.R1139H
p.R1139H
p.R1139H
p.R1139H
p.R1139H
p.R1139H
p.R1136H
p.R1139H
p.R1139H
p.R1139H
p.R1139H
p.R1159H
p.R1159H
p.R1159H		28.9-D’Gama2015 T
ARID1B     AN16641chr6:
157522004-157522004		CTexonicUnknownnonsynonymous SNVNM_017519
NM_020732		c.C4237T
c.C4276T		p.P1413S
p.P1426S		13.33-D’Gama2015 T
ARID1B     AN17515chr6:
157100526-157100526		CGexonicUnknownnonsynonymous SNVNM_017519
NM_020732		c.C1463G
c.C1463G		p.P488R
p.P488R		12.11.0E-4D’Gama2015 T
CHD8     UK28768chr14:
21878144-21878144		CTexonicUnknownnonsynonymous SNVNM_001170629
NM_020920		c.G2230A
c.G1393A		p.V744I
p.V465I		28.8-D’Gama2015 T
CNTNAP2     AN00090chr7:
146805310-146805310		CAexonicUnknownnonsynonymous SNVNM_014141c.C622Ap.L208M16.99-D’Gama2015 T
SCN2A     AN09714chr2:
166237699-166237699		CTexonicUnknownstopgainNM_001040143
NM_001040142
NM_021007		c.C4543T
c.C4543T
c.C4543T		p.R1515X
p.R1515X
p.R1515X		43.0-D’Gama2015 T
CACNA1H     D’Gama2015:278chr16:
1268991-1268991		CGexonicUnknownnonsynonymous SNVNM_001005407
NM_021098		c.C5891G
c.C5909G		p.S1964C
p.S1970C		15.92-D’Gama2015 T
SCN2A     AN08043chr2:
166237708-166237708		GCsplicingUnknownsplicing22.2-D’Gama2015 T
CACNA1H     UK45353chr16:
1259273-1259273		GAexonicUnknownnonsynonymous SNVNM_001005407
NM_021098		c.G3605A
c.G3605A		p.R1202Q
p.R1202Q		8.8921.0E-4D’Gama2015 T
GRIA3     UK25363chrX:
122460038-122460038		GCexonicUnknownnonsynonymous SNVNM_000828
NM_007325		c.G670C
c.G670C		p.E224Q
p.E224Q		16.07-D’Gama2015 T
GRIK2     D’Gama2015:5308chr6:
102513700-102513700		ATexonicUnknownnonsynonymous SNVNM_001166247c.A2591Tp.Y864F6.976-D’Gama2015 T
CNTNAP2     AN03345chr7:
146805322-146805322		AGexonicUnknownnonsynonymous SNVNM_014141c.A634Gp.I212V21.1-D’Gama2015 T
SCN2A     AN04166chr2:
166245546-166245546		GAexonicUnknownnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G5230A
c.G5230A
c.G5230A		p.G1744R
p.G1744R
p.G1744R		18.99-D’Gama2015 T
FGD1     D’Gama2015:302chrX:
54473807-54473807		GTexonicUnknownnonsynonymous SNVNM_004463c.C2517Ap.H839Q7.298-D’Gama2015 T
PTCHD1     AN09730chrX:
23410878-23410878		CTexonicUnknownnonsynonymous SNVNM_173495c.C1243Tp.L415F7.789-D’Gama2015 T
PTEN     AN01570chr10:
89685300-89685300		CAexonicUnknownstopgainNM_000314
NM_001304717		c.C195A
c.C714A		p.Y65X
p.Y238X		49.0-D’Gama2015 T
GRIN2A     D’Gama2015:5297chr16:
9858751-9858751		CTexonicUnknownnonsynonymous SNVNM_001134407
NM_001134408
NM_000833		c.G2650A
c.G2650A
c.G2650A		p.D884N
p.D884N
p.D884N		17.012.472E-5D’Gama2015 T
PQBP1     D’Gama2015:797chrX:
48760294-48760294		CTexonicUnknownnonsynonymous SNVNM_001167992
NM_005710
NM_144495
NM_001032381
NM_001032382
NM_001032383
NM_001032384
NM_001167989
NM_001167990		c.C431T
c.C731T
c.C446T
c.C731T
c.C731T
c.C731T
c.C731T
c.C728T
c.C707T		p.P144L
p.P244L
p.P149L
p.P244L
p.P244L
p.P244L
p.P244L
p.P243L
p.P236L		25.6-D’Gama2015 T
SCN1A     AN16115chr2:
166856252-166856252		GAexonicUnknownnonsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435		c.C4319T
c.C4235T
c.C4286T
c.C4319T		p.A1440V
p.A1412V
p.A1429V
p.A1440V		28.2-D’Gama2015 T
SEMA5A     D’Gama2015:1349chr5:
9224846-9224846		GAexonicUnknownstopgainNM_003966c.C586Tp.R196X28.68.25E-6D’Gama2015 T
RAI1     D’Gama2015:4671chr17:
17700661-17700661		CTexonicUnknownnonsynonymous SNVNM_030665c.C4399Tp.P1467S12.16-D’Gama2015 T
SCN1A     D’Gama2015:5278chr2:
166911147-166911147		CTsplicingMosaicsplicing27.6-D’Gama2015 T
SETD2     AN00090chr3:
47164663-47164663		TCexonicUnknownnonsynonymous SNVNM_014159c.A1463Gp.Y488C13.812.727E-5D’Gama2015 T
SGSM3     AN09714chr22:
40801735-40801735		CTexonicUnknownnonsynonymous SNVNM_001301849
NM_015705		c.C512T
c.C701T		p.A171V
p.A234V		13.778.263E-6D’Gama2015 T
SETD2     D’Gama2015:5297chr3:
47127776-47127776		GTexonicUnknownnonsynonymous SNVNM_014159c.C5306Ap.S1769Y14.588.251E-6D’Gama2015 T
SETD2     UK20244chr3:
47144882-47144882		GCexonicMosaicnonsynonymous SNVNM_014159c.C4871Gp.S1624C26.1-D’Gama2015 T
TSC2     D’Gama2015:4231chr16:
2138267-2138267		GAexonicUnknownnonsynonymous SNVNM_001077183
NM_001114382
NM_000548		c.G4999A
c.G5131A
c.G5200A		p.D1667N
p.D1711N
p.D1734N		25.08.307E-6D’Gama2015 T
UBE3C     D’Gama2015:4999chr7:
156974902-156974902		GAexonicUnknownnonsynonymous SNVNM_014671c.G871Ap.V291I0.5218.238E-5D’Gama2015 T
SLC6A8     AN16641chrX:
152954233-152954234		CGCexonicUnknownframeshift deletionNM_001142805
NM_005629		c.205delG
c.205delG		p.A69fs
p.A69fs		--D’Gama2015 T
TSC1     D’Gama2015:5176chr9:
135772049-135772049		GAexonicUnknownnonsynonymous SNVNM_001162427
NM_000368
NM_001162426		c.C2915T
c.C3068T
c.C3065T		p.P972L
p.P1023L
p.P1022L		13.86-D’Gama2015 T
UPF3B     D’Gama2015:5308chrX:
118975088-118975088		AGexonicUnknownnonsynonymous SNVNM_023010
NM_080632		c.T758C
c.T758C		p.I253T
p.I253T		2.2851.161E-5D’Gama2015 T
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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