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Results for "MKI67"

Variant Events: 18

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
MKI67     M02532chr10:
129905111-129905113
CTGCexonicUnknownframeshift deletionNM_001145966
NM_002417
c.3911_3912del
c.4991_4992del
p.T1304fs
p.T1664fs
-0.0219Guo2018 T
MKI67     M27818chr10:
129911833-129911833
CTexonicMaternalnonsynonymous SNVNM_001145966
NM_002417
c.G434A
c.G1514A
p.R145H
p.R505H
34.05.766E-5Guo2018 T
Wang2016 T
MKI67     Li2017:23639chr10:
129913650-129913651
TCTexonicUnknownframeshift deletionNM_002417c.1021delGp.E341fs--Li2017 T
MKI67     03C17147chr10:
129901680-129901681
TGTTGexonicDe novoframeshift insertionNM_001145966
NM_002417
c.7344dupA
c.8424dupA
p.G2449fs
p.G2809fs
--Stessman2017 T
Stessman2017 T
MKI67     M12471chr10:
129905111-129905113
CTGCexonicUnknownframeshift deletionNM_001145966
NM_002417
c.3911_3912del
c.4991_4992del
p.T1304fs
p.T1664fs
-0.0219Guo2018 T
MKI67     Lim2017:5029chr10:
129903200-129903200
AGexonicDe novononsynonymous SNVNM_001145966
NM_002417
c.T5824C
c.T6904C
p.W1942R
p.W2302R
0.004-Lim2017 E
MKI67     M01713chr10:
129905111-129905113
CTGCexonicUnknownframeshift deletionNM_001145966
NM_002417
c.3911_3912del
c.4991_4992del
p.T1304fs
p.T1664fs
-0.0219Guo2018 T
MKI67     1-0191-003chr10:
130013225-130013225
CGintergenicDe novo--Yuen2017 G
MKI67     AU006804chr10:
130002905-130002905
GTintergenicDe novo--Yuen2017 G
MKI67     AU4215302chr10:
130079793-130079793
CGintergenicDe novo--Yuen2017 G
MKI67     M21670 Complex Event; expand row to view variants  Maternalframeshift deletionNM_001145966
NM_002417
NM_001145966
NM_002417
c.8534_8535del
c.9614_9615del
c.8533_8534del
c.9613_9614del
p.T2845fs
p.T3205fs
p.T2845fs
p.T3205fs
--Guo2018 T
Stessman2017 T
Wang2016 T
MKI67     M23639 Complex Event; expand row to view variants  Paternalframeshift deletionNM_002417c.1021delGp.E341fs--Guo2018 T
Stessman2017 T
Wang2016 T
MKI67     2-1094-004chr10:
130027932-130027932
AGintergenicDe novo--Yuen2017 G
MKI67     1-0627-004chr10:
130050485-130050485
GAintergenicDe novo--Yuen2017 G
MKI67     DEASD_0066_001chr10:
129906031-129906031
TAexonicDe novononsynonymous SNVNM_001145966
NM_002417
c.A2993T
c.A4073T
p.H998L
p.H1358L
12.72-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
MKI67     M12417chr10:
129911822-129911822
CGexonicUnknownnonsynonymous SNVNM_001145966
NM_002417
c.G445C
c.G1525C
p.G149R
p.G509R
26.1-Stessman2017 T
MKI67     12795.p1chr10:
129900855-129900855
GAexonicDe novosynonymous SNVNM_001145966
NM_002417
c.C8169T
c.C9249T
p.V2723V
p.V3083V
--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Turner2016 G
MKI67     13530.p1chr10:
129903200-129903200
AGexonicDe novononsynonymous SNVNM_001145966
NM_002417
c.T5824C
c.T6904C
p.W1942R
p.W2302R
0.004-Iossifov2014 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 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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