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Results for "KSR2"

Variant Events: 66

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
KSR2     1-0186-004chr12:
118095925-118095925
GAintronicDe novo--Trost2022 G
Yuen2017 G
KSR2     2-1409-003chr12:
118019249-118019249
ACintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
KSR2     AU0786305chr12:
118128038-118128038
GCintronicDe novo--Trost2022 G
Yuen2017 G
KSR2     1-0303-003chr12:
118107119-118107120
TATintronicDe novo--Trost2022 G
Yuen2017 G
KSR2     AU006804chr12:
117987784-117987785
CACintronicDe novo--Trost2022 G
Yuen2017 G
KSR2     16.s1chr12:
117922337-117922337
GTexonicDe novononsynonymous SNVNM_173598c.C2247Ap.H749Q17.65-An2014 E
KSR2     2-1315-003chr12:
118097041-118097041
CGintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
KSR2     AU3911301 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
KSR2     AU2075302chr12:
118143148-118143148
CGintronicDe novo--Trost2022 G
Yuen2017 G
KSR2     SP0099588 Complex Event; expand row to view variants  De novoframeshift substitution, nonsynonymous SNVNM_173598
NM_173598
c.C1513A
c.1513_1514A
p.P505T
N/A
23.0-Trost2022 G
Zhou2022 GE
KSR2     AU4056301chr12:
118452210-118452210
GCintergenicDe novo--Yuen2017 G
KSR2     1-0579-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
KSR2     AU1521301chr12:
118431651-118431651
AGintergenicDe novo--Yuen2017 G
KSR2     AU2437302chr12:
118370555-118370555
CTintronicDe novo--Trost2022 G
Yuen2017 G
KSR2     AU3874301chr12:
118149669-118149669
TCintronicDe novo--Trost2022 G
Yuen2017 G
KSR2     SP0064457chr12:
117993029-117993029
CTexonicDe novononsynonymous SNVNM_173598c.G1376Ap.R459H13.61-Fu2022 E
Trost2022 G
Zhou2022 GE
KSR2     AU4150301chr12:
118151402-118151402
AGintronicDe novo--Trost2022 G
Yuen2017 G
KSR2     13825.p1chr12:
118122627-118122627
TCintronicDe novo--Wilfert2021 G
KSR2     2-1690-003chr12:
118376934-118376934
ACintronicDe novo--Trost2022 G
Yuen2017 G
KSR2     AU063004chr12:
118068497-118068497
ATintronicDe novo--Trost2022 G
Yuen2017 G
KSR2     SP0099588chr12:
117977604-117977605
AGAexonicDe novoframeshift deletionNM_173598c.1519delCp.L507fs--Antaki2022 GE
Fu2022 E
Trost2022 G
KSR2     2-0132-004chr12:
118181340-118181340
CTintronicDe novo--Trost2022 G
Yuen2017 G
KSR2     AU4239301chr12:
118021390-118021392
CTTCintronicDe novo--Trost2022 G
Yuen2017 G
KSR2     2-1362-004chr12:
117900781-117900782
AGGCCUTR3De novo--Trost2022 G
KSR2     AU3761302chr12:
118165367-118165367
GAintronicDe novo--Yuen2017 G
KSR2     1-0494-003Achr12:
117931993-117931993
CTintronicDe novo--Trost2022 G
Yuen2017 G
KSR2     SP0185065chr12:
117968793-117968793
CTexonicDe novosynonymous SNVNM_173598c.G1668Ap.P556P-0.0013Trost2022 G
KSR2     3-0706-000Achr12:
118003666-118003666
CTintronicDe novo--Trost2022 G
KSR2     Wang2023:748chr12:
118293302-118293302
CTexonicDe novononsynonymous SNVNM_173598c.G316Ap.G106R21.6-Wang2023 E
KSR2     MSSNG00017-003chr12:
117955443-117955443
CTintronicDe novo--Trost2022 G
KSR2     MSSNG00201-003chr12:
117965143-117965143
CGintronicDe novo--Trost2022 G
KSR2     MSSNG00429-003chr12:
117910835-117910835
TCintronicDe novo--Trost2022 G
KSR2     1-0257-003chr12:
118372787-118372787
CTintronicDe novo--Yuen2017 G
KSR2     MSSNG00371-003chr12:
117948054-117948054
AGintronicDe novo--Trost2022 G
KSR2     7-0141-003chr12:
118152243-118152243
CGintronicDe novo--Trost2022 G
Yuen2017 G
KSR2     2-1169-003chr12:
117900781-117900782
AGGCCUTR3De novo--Trost2022 G
KSR2     AU3702306chr12:
117909249-117909249
CTintronicDe novo--Trost2022 G
KSR2     REACH000697chr12:
118059906-118059906
GCintronicDe novo--Trost2022 G
KSR2     AU3792301chr12:
118089037-118089037
CTintronicDe novo--Trost2022 G
KSR2     5-5012-003chr12:
118014270-118014270
TCintronicDe novo--Trost2022 G
KSR2     7-0233-003chr12:
118049465-118049465
CAintronicDe novo--Trost2022 G
KSR2     1-1175-003chr12:
118005752-118005752
AGintronicDe novo--Trost2022 G
KSR2     REACH000258chr12:
118007652-118007652
TAintronicDe novo--Trost2022 G
KSR2     1-1175-003chr12:
118005734-118005734
CAintronicDe novo--Trost2022 G
KSR2     1-1175-003chr12:
118005742-118005742
TCintronicDe novo--Trost2022 G
KSR2     5-5016-003chr12:
118153507-118153507
CTintronicDe novo--Trost2022 G
KSR2     2-1763-003chr12:
118160700-118160701
TCTintronicDe novo--Trost2022 G
KSR2     MSSNG00385-003chr12:
118122866-118122866
CTintronicDe novo--Trost2022 G
KSR2     3-0752-000chr12:
118137235-118137235
GAintronicDe novo--Trost2022 G
KSR2     SJD_63.3chr12:
118101604-118101605
GCGintronicDe novo--Trost2022 G
KSR2     MSSNG00016-004chr12:
118105505-118105505
TCintronicDe novo--Trost2022 G
KSR2     5-1012-003chr12:
118091545-118091545
CTintronicDe novo--Trost2022 G
KSR2     MSSNG00397-003chr12:
118093287-118093287
GAintronicDe novo--Trost2022 G
KSR2     7-0357-004chr12:
118280128-118280128
GAintronicDe novo--Trost2022 G
KSR2     2-1341-003chr12:
118301208-118301208
TCintronicDe novo--Trost2022 G
KSR2     10-1019-003chr12:
118272980-118272980
CTintronicDe novo--Trost2022 G
KSR2     1-0494-003chr12:
117931993-117931993
CTintronicDe novo--Yuen2017 G
KSR2     MSSNG00120-003chr12:
118277914-118277914
TTAintronicDe novo--Trost2022 G
KSR2     5-0041-003chr12:
118309449-118309449
GCintronicDe novo--Yuen2017 G
KSR2     2-1751-003chr12:
118244081-118244081
CTintronicDe novo--Trost2022 G
KSR2     REACH000689chr12:
118265597-118265597
CTintronicDe novo--Trost2022 G
KSR2     5-5064-003chr12:
118190750-118190750
GCintronicDe novo--Trost2022 G
KSR2     3-0368-000chr12:
118226354-118226354
GAintronicDe novo--Trost2022 G
KSR2     MT_107.3chr12:
118312218-118312218
TTGintronicDe novo--Trost2022 G
KSR2     AU3154302chr12:
117957358-117957358
GAintronicDe novo--Trost2022 G
Yuen2017 G
KSR2     1-1020-003Achr12:
118391074-118391074
GCintronicDe novo--Trost2022 G
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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