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Results for "Kim2020"

Variant Events: 35

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
TCTE1     Kim2020:A4chr6:
44250020-44250020		CTexonicDe novononsynonymous SNVNM_182539c.G1123Ap.E375K9.9471.648E-5Kim2020 E
ATXN1     Kim2020:B26chr6:
16306868-16306868		CTexonicDe novononsynonymous SNVNM_001128164
NM_000332		c.G2140A
c.G2140A		p.D714N
p.D714N		19.29-Kim2020 E
KCTD9     Kim2020:A9chr8:
25293758-25293758		CTexonicDe novononsynonymous SNVNM_017634c.G656Ap.R219Q35.0-Kim2020 E
MTUS1     Kim2020:B26chr8:
17554905-17554905		GAUTR5De novo-2.491E-5Kim2020 E
NEK1     Kim2020:B11chr4:
170523693-170523693		TCexonicDe novononsynonymous SNVNM_001199400
NM_012224
NM_001199397
NM_001199398
NM_001199399		c.A89G
c.A89G
c.A89G
c.A89G
c.A89G		p.Y30C
p.Y30C
p.Y30C
p.Y30C
p.Y30C		18.4-Kim2020 E
NFKB1     Kim2020:B25chr4:
103528408-103528408		GAexonicDe novononsynonymous SNVNM_001165412
NM_003998		c.G2053A
c.G2056A		p.G685R
p.G686R		24.7-Kim2020 E
RUFY1     Kim2020:B29chr5:
179036381-179036381		AGexonicDe novononsynonymous SNVNM_001040451
NM_001040452
NM_025158		c.A1664G
c.A1664G
c.A1988G		p.H555R
p.H555R
p.H663R		21.7-Kim2020 E
RBM27       Kim2020:B26chr5:
145613207-145613207		CAexonicDe novononsynonymous SNVNM_018989c.C1045Ap.P349T18.0-Kim2020 E
DTX1     Kim2020:B6chr12:
113531867-113531867		GAexonicDe novononsynonymous SNVNM_004416c.G1190Ap.R397Q20.2-Kim2020 E
RNH1     Kim2020:B33chr11:
499976-499976		CTexonicDe novononsynonymous SNVNM_203384
NM_203385
NM_203388
NM_203389
NM_002939
NM_203383
NM_203386
NM_203387		c.G296A
c.G296A
c.G296A
c.G296A
c.G296A
c.G296A
c.G296A
c.G296A		p.G99E
p.G99E
p.G99E
p.G99E
p.G99E
p.G99E
p.G99E
p.G99E		0.001-Kim2020 E
SYNM     Kim2020:B18chr15:
99671865-99671865		GAexonicDe novounknown-8.944E-6Kim2020 E
RASGRP1     Kim2020:B12chr15:
38808409-38808409		GAexonicDe novononsynonymous SNVNM_001128602
NM_001306086
NM_005739		c.C664T
c.C664T
c.C664T		p.R222W
p.R222W
p.R222W		15.52-Kim2020 E
UBAC1     Kim2020:B10chr9:
138831585-138831585		CAexonicDe novononsynonymous SNVNM_016172c.G897Tp.E299D16.6-Kim2020 E
AKNA     Kim2020:A12chr9:
117104343-117104343		ATexonicDe novononsynonymous SNVNM_030767c.T3820Ap.C1274S15.91-Kim2020 E
SFMBT2     Kim2020:B5chr10:
7412242-7412242		CTsplicingDe novosplicing15.49-Kim2020 E
PITRM1-AS1     Kim2020:B25chr10:
3183917-3183917		GAncRNA_exonicDe novo--Kim2020 E
ANKRD27     Kim2020:B21chr19:
33119026-33119026		GCexonicDe novononsynonymous SNVNM_032139c.C1383Gp.D461E21.0-Kim2020 E
GMIP     Kim2020:B21chr19:
19748195-19748195		TAexonicDe novononsynonymous SNVNM_001288998
NM_001288999
NM_016573		c.A1103T
c.A1103T
c.A1103T		p.E368V
p.E368V
p.E368V		17.06-Kim2020 E
TFPT     Kim2020:B4chr19:
54610400-54610404		TTGTCTexonicDe novoframeshift deletionNM_013342c.715_718delp.D239fs--Kim2020 E
MYH14     Kim2020:A3chr19:
50760600-50760600		GAexonicDe novononsynonymous SNVNM_024729
NM_001077186
NM_001145809		c.G1966A
c.G1990A
c.G2089A		p.G656S
p.G664S
p.G697S		6.9157.16E-5Kim2020 E
ADCY7     Kim2020:B10chr16:
50327391-50327391		GAexonicDe novononsynonymous SNVNM_001114
NM_001286057		c.G814A
c.G814A		p.V272I
p.V272I		15.288.278E-5Kim2020 E
TMEM8A     Kim2020:B25chr16:
427706-427706		CGexonicDe novononsynonymous SNVNM_021259c.G264Cp.E88D3.637-Kim2020 E
SNF8     Kim2020:B25chr17:
47014490-47014490		CTintronicDe novo--Kim2020 E
PIEZO1     Kim2020:B3chr16:
88805034-88805059		GGCCGTGACTCGGAAACGAGCGGCCAGexonicDe novoframeshift deletionNM_001142864c.551_575delp.L184fs--Kim2020 E
PPP1R16B     Kim2020:B7chr20:
37531322-37531322		GAexonicDe novononsynonymous SNVNM_001172735
NM_015568		c.G583A
c.G583A		p.E195K
p.E195K		24.9-Kim2020 E
NOL4L     Kim2020:B9chr20:
31041563-31041563		GCexonicDe novononsynonymous SNVNM_080616
NM_001256798		c.C389G
c.C1121G		p.S130C
p.S374C		16.789.552E-5Kim2020 E
HMGXB4     Kim2020:B32chr22:
35661285-35661285		CGexonicDe novononsynonymous SNVNM_001003681c.C904Gp.L302V17.14-Kim2020 E
COL6A2     Kim2020:B37chr21:
47541504-47541504		GAexonicDe novononsynonymous SNVNM_001849
NM_058174
NM_058175		c.G1493A
c.G1493A
c.G1493A		p.R498H
p.R498H
p.R498H		24.02.517E-5Kim2020 E
LARS2     Kim2020:B1chr3:
45554679-45554679		CTexonicDe novononsynonymous SNVNM_015340c.C1813Tp.R605C20.82.0E-4Kim2020 E
TTC21A     Kim2020:B16chr3:
39154020-39154020		CAexonicDe novostopgainNM_145755c.C507Ap.Y169X20.8-Kim2020 E
SLC26A1     Kim2020:B27chr4:
983867-983867		CTexonicDe novononsynonymous SNVNM_022042
NM_213613		c.G860A
c.G860A		p.R287H
p.R287H		7.9653.547E-5Kim2020 E
CELSR3     Kim2020:A12chr3:
48683040-48683040		CTexonicDe novononsynonymous SNVNM_001407c.G7633Ap.V2545M16.642.556E-5Kim2020 E
AMIGO1     Kim2020:B34chr1:
110050180-110050180		CAexonicDe novononsynonymous SNVNM_020703c.G1355Tp.G452V16.01-Kim2020 E
IWS1     Kim2020:B5chr2:
128250906-128250906		CGexonicDe novononsynonymous SNVNM_017969c.G1880Cp.S627T16.44-Kim2020 E
Kim2020 E
HAX1     Kim2020:B15chr1:
154247456-154247456		CAexonicDe novononsynonymous SNVNM_001018837
NM_006118		c.C391A
c.C535A		p.P131T
p.P179T		3.42-Kim2020 E
Kim2020 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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