or
or
Exact

Results for "More2023"

Variant Events: 43

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
CHD7     More2023:19chr8:
61707624-61707624		GTexonicInheritednonsynonymous SNVNM_017780c.G2176Tp.D726Y24.41.66E-5More2023 G
DGKI     More2023:4chr7:
137531385-137531385		CAexonicDe novononsynonymous SNVNM_004717c.G224Tp.G75V15.0-More2023 G
PREX1     More2023:3chr20:
47309282-47309282		CTexonicInheritednonsynonymous SNVNM_020820c.G964Ap.G322S36.02.471E-5More2023 G
SON     More2023:19chr21:
34923617-34923617		AGexonicInheritednonsynonymous SNVNM_001291411
NM_032195
NM_138927		c.A2080G
c.A2080G
c.A2080G		p.T694A
p.T694A
p.T694A		13.150.0038More2023 G
DYNC1H1     More2023:15chr14:
102509021-102509021		CTexonicDe novononsynonymous SNVNM_001376c.C12449Tp.P4150L26.1-More2023 G
YTHDC1     More2023:28chr4:
69203301-69203301		CAexonicInheritednonsynonymous SNVNM_001031732
NM_133370		c.G448T
c.G448T		p.D150Y
p.D150Y		17.998.421E-6More2023 G
PSMD1     More2023:19chr2:
232010978-232010978		AGexonicInheritednonsynonymous SNVNM_001191037
NM_002807		c.A2023G
c.A2023G		p.M675V
p.M675V		19.531.0E-4More2023 G
PCLO     More2023:11chr7:
82584378-82584378		GAexonicInheritednonsynonymous SNVNM_014510
NM_033026		c.C5891T
c.C5891T		p.T1964M
p.T1964M		0.0295.0E-4More2023 G
TAF4     More2023:4chr20:
60640497-60640497		CGexonicDe novononsynonymous SNVNM_003185c.G370Cp.A124P8.953-More2023 G
TP53BP1     More2023:22chr15:
43714134-43714134		CAexonicInheritednonsynonymous SNVNM_001141979
NM_001141980
NM_005657		c.G4019T
c.G4019T
c.G4004T		p.G1340V
p.G1340V
p.G1335V		16.644.119E-5More2023 G
RIMS2     More2023:21chr8:
104897660-104897660		CTexonicInheritednonsynonymous SNVNM_001282881
NM_014677
NM_001100117		c.C257T
c.C257T
c.C833T		p.S86F
p.S86F
p.S278F		15.120.0154More2023 G
PTPRT     More2023:10chr20:
40735430-40735430		GCexonicInheritednonsynonymous SNVNM_007050
NM_133170		c.C3386G
c.C3443G		p.T1129R
p.T1148R		27.11.0E-4More2023 G
PTCH1     More2023:19chr9:
98242733-98242733		GAexonicInheritednonsynonymous SNVNM_000264
NM_001083602
NM_001083603
NM_001083604
NM_001083605
NM_001083606
NM_001083607		c.C884T
c.C686T
c.C881T
c.C431T
c.C431T
c.C431T
c.C431T		p.P295L
p.P229L
p.P294L
p.P144L
p.P144L
p.P144L
p.P144L		32.04.942E-5More2023 G
KDM5A     More2023:4chr12:
430192-430192		GAexonicInheritednonsynonymous SNVNM_001042603c.C2510Tp.P837L33.02.484E-5More2023 G
CASKIN1     More2023:19chr16:
2231252-2231252		GAexonicInheritednonsynonymous SNVNM_020764c.C2117Tp.S706L13.78.0E-4More2023 G
KDM3A     More2023:4chr2:
86716780-86716780		AGexonicDe novononsynonymous SNVNM_001146688
NM_018433		c.A3571G
c.A3571G		p.K1191E
p.K1191E		28.5-More2023 G
ZBTB18     More2023:22chr1:
244217437-244217437		GCexonicDe novononsynonymous SNVNM_006352
NM_001278196
NM_205768		c.G334C
c.G334C
c.G361C		p.V112L
p.V112L
p.V121L		24.0-More2023 G
FAT3     More2023:14chr11:
92534043-92534043		GTexonicInheritednonsynonymous SNVNM_001008781c.G7864Tp.V2622F18.450.004More2023 G
SETD2     More2023:14chr3:
47165380-47165380		GAexonicInheritednonsynonymous SNVNM_014159c.C746Tp.S249F11.1-More2023 G
TAF4     More2023:21chr20:
60640497-60640497		CGexonicDe novononsynonymous SNVNM_003185c.G370Cp.A124P8.953-More2023 G
MAP2     More2023:16chr2:
210559050-210559050		GAexonicInheritednonsynonymous SNVNM_002374c.G2156Ap.G719D18.510.0013More2023 G
CUX1     More2023:16chr7:
101921292-101921292		ACexonicInheritednonsynonymous SNVNM_001202544
NM_001202545
NM_001202546
NM_001913
NM_181500		c.A1588C
c.A1498C
c.A1519C
c.A1636C
c.A1630C		p.K530Q
p.K500Q
p.K507Q
p.K546Q
p.K544Q		21.60.0063More2023 G
PHLPP1     More2023:7chr18:
60506114-60506115		ACAexonicDe novoframeshift deletionNM_194449c.1872delCp.Y624fs--More2023 G
NCOR2     More2023:10chr12:
124832388-124832388		CTexonicInheritednonsynonymous SNVNM_001077261
NM_001206654
NM_006312		c.G4025A
c.G4025A
c.G4055A		p.R1342H
p.R1342H
p.R1352H		13.880.0091More2023 G
MACF1     More2023:3chr1:
39853641-39853641		GTexonicInheritednonsynonymous SNVNM_012090c.G8941Tp.A2981S23.60.0062More2023 G
WDR7     More2023:10chr18:
54547385-54547385		CGexonicInheritednonsynonymous SNVNM_052834
NM_015285		c.C3416G
c.C3515G		p.A1139G
p.A1172G		31.03.59E-5More2023 G
SETD2     More2023:10chr3:
47164711-47164711		CTexonicInheritednonsynonymous SNVNM_014159c.G1415Ap.R472H20.77.0E-4More2023 G
ANKRD11     More2023:10chr16:
89346774-89346774		GTexonicInheritednonsynonymous SNVNM_001256183
NM_013275
NM_001256182		c.C6176A
c.C6176A
c.C6176A		p.P2059H
p.P2059H
p.P2059H		12.30.0547More2023 G
ESR1     More2023:10chr6:
152265352-152265352		CTexonicInheritednonsynonymous SNVNM_000125
NM_001122740
NM_001122741
NM_001291230
NM_001291241
NM_001122742		c.C805T
c.C805T
c.C805T
c.C811T
c.C802T
c.C805T		p.R269C
p.R269C
p.R269C
p.R271C
p.R268C
p.R269C		24.40.001More2023 G
BRPF1     More2023:10chr3:
9783082-9783082		GAexonicInheritednonsynonymous SNVNM_001003694
NM_004634		c.G1813A
c.G1813A		p.V605M
p.V605M		25.7-More2023 G
PCDH1     More2023:15chr5:
141243507-141243507		GAexonicInheritednonsynonymous SNVNM_001278615
NM_001278613
NM_002587
NM_032420		c.C1252T
c.C2437T
c.C2389T
c.C2389T		p.R418C
p.R813C
p.R797C
p.R797C		14.84.194E-5More2023 G
TNS3     More2023:15chr7:
47331594-47331594		GAexonicInheritednonsynonymous SNVNM_022748c.C3887Tp.T1296M19.720.0046More2023 G
SEMA3F     More2023:22chr3:
50225538-50225538		CTexonicInheritednonsynonymous SNVNM_004186c.C2348Tp.P783L21.33.969E-5More2023 G
KMT2C     More2023:19chr7:
151932996-151932996		CTexonicInheritednonsynonymous SNVNM_170606c.G2675Ap.G892E21.74.0E-4More2023 G
ATP2B2     More2023:15chr3:
10392216-10392216		GAexonicInheritednonsynonymous SNVNM_001683
NM_001001331		c.C2047T
c.C2182T		p.R683C
p.R728C		28.0-More2023 G
MACF1     More2023:10chr1:
39763365-39763365		GTexonicInheritednonsynonymous SNVNM_012090c.G2444Tp.C815F32.00.0051More2023 G
STXBP5L     More2023:15chr3:
120952486-120952486		GAexonicInheritednonsynonymous SNVNM_001308330
NM_014980		c.G1135A
c.G1135A		p.V379M
p.V379M		16.240.0057More2023 G
CLOCK     More2023:22chr4:
56319253-56319253		CGexonicInheritednonsynonymous SNVNM_004898
NM_001267843		c.G1174C
c.G1174C		p.E392Q
p.E392Q		25.1-More2023 G
VCAN     More2023:14chr5:
82786147-82786147		GTexonicInheritednonsynonymous SNVNM_001126336
NM_001164097
NM_001164098
NM_004385		c.G301T
c.G301T
c.G301T
c.G301T		p.V101L
p.V101L
p.V101L
p.V101L		18.691.648E-5More2023 G
JADE2     More2023:14chr5:
133901944-133901944		CTexonicInheritednonsynonymous SNVNM_001289984
NM_001289985
NM_001308143
NM_015288		c.C1108T
c.C1156T
c.C1108T
c.C1108T		p.R370C
p.R386C
p.R370C
p.R370C		12.856.0E-4More2023 G
JAG1     More2023:19chr20:
10621462-10621462		TGexonicInheritednonsynonymous SNVNM_000214c.A3168Cp.R1056S19.961.0E-4More2023 G
TTC28     More2023:14chr22:
28426233-28426233		GAexonicInheritednonsynonymous SNVNM_001145418c.C4054Tp.R1352C20.34.709E-5More2023 G
MTOR     More2023:25chr1:
11272478-11272478		TCexonicInheritednonsynonymous SNVNM_004958c.A3452Gp.Y1151C18.62.0E-4More2023 G
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
More

VariCarta Copyright © 2016-2023 Contact Us