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Results for "MEIS2"

Variant Events: 58

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
MEIS2     2-1094-004chr15:
37242546-37242546
GAexonicDe novononsynonymous SNVNM_172315
NM_002399
NM_170674
NM_170675
NM_170676
NM_170677
NM_172316
NM_001220482
c.C917T
c.C917T
c.C956T
c.C956T
c.C956T
c.C956T
c.C692T
c.C956T
p.T306I
p.T306I
p.T319I
p.T319I
p.T319I
p.T319I
p.T231I
p.T319I
19.38-Wang2020 T
Yuen2017 G
MEIS2     AU4485302chr15:
37634396-37634396
TCintergenicDe novo--Yuen2017 G
MEIS2     1-0467-005chr15:
38051503-38051503
GAintergenicDe novo--Yuen2017 G
MEIS2     2-0070-003chr15:
38133507-38133507
GAintergenicDe novo--Yuen2017 G
MEIS2     2-1169-003chr15:
37616644-37616644
CTintergenicDe novo--Yuen2017 G
MEIS2     1-0065-004chr15:
37985459-37985459
GGATTintergenicDe novo--Yuen2017 G
MEIS2     2-1722-003chr15:
37696960-37696960
CTintergenicDe novo--Yuen2017 G
MEIS2     AU3727302chr15:
37342951-37342951
TAintronicDe novo--Yuen2017 G
MEIS2     SP0026296chr15:
37385901-37385901
GAexonicDe novostopgainNM_172315
NM_002399
NM_170674
NM_170675
NM_170676
NM_170677
NM_172316
NM_001220482
c.C481T
c.C481T
c.C520T
c.C520T
c.C520T
c.C520T
c.C256T
c.C520T
p.R161X
p.R161X
p.R174X
p.R174X
p.R174X
p.R174X
p.R86X
p.R174X
40.0-Feliciano2019 E
MEIS2     5-0148-003chr15:
37972035-37972035
GAintergenicDe novo--Yuen2017 G
MEIS2     AU4211304chr15:
37402594-37402594
ATintergenicDe novo--Yuen2017 G
MEIS2     1-0158-003chr15:
37292979-37292979
GAintronicDe novo--Yuen2017 G
MEIS2     AU4015302chr15:
37640465-37640465
GAintergenicDe novo--Yuen2017 G
MEIS2     3-0456-000chr15:
37738882-37738883
AGAintergenicDe novo--Yuen2017 G
MEIS2     1-0092-004chr15:
37429572-37429572
CTintergenicDe novo--Yuen2017 G
MEIS2     SF0018947.p1chr15:
37385901-37385901
GAexonicDe novostopgainNM_172315
NM_002399
NM_170674
NM_170675
NM_170676
NM_170677
NM_172316
NM_001220482
c.C481T
c.C481T
c.C520T
c.C520T
c.C520T
c.C520T
c.C256T
c.C520T
p.R161X
p.R161X
p.R174X
p.R174X
p.R174X
p.R174X
p.R86X
p.R174X
40.0-Wang2020 T
MEIS2     AU2035302chr15:
37816665-37816665
AGintergenicDe novo--Yuen2017 G
MEIS2     AU4306302chr15:
38133460-38133460
TAintergenicDe novo--Yuen2017 G
MEIS2     1-0412-003chr15:
37617954-37617954
GAintergenicDe novo--Yuen2017 G
MEIS2     AU3399303chr15:
38222404-38222404
ATintergenicDe novo--Yuen2017 G
MEIS2     7-0102-003chr15:
37373593-37373593
TCintronicDe novo--Yuen2017 G
MEIS2     1-0049-004chr15:
37876608-37876608
GAintergenicDe novo--Yuen2017 G
MEIS2     AU4027306chr15:
37301216-37301216
CTintronicDe novo--Yuen2017 G
MEIS2     1-0627-004chr15:
37214694-37214694
CTintronicDe novo--Yuen2017 G
MEIS2     7-0078-003chr15:
37663576-37663576
CTintergenicDe novo--Yuen2017 G
MEIS2     AU1933301chr15:
37390021-37390021
CTintronicDe novo--Yuen2017 G
MEIS2     AU2035301chr15:
37816665-37816665
AGintergenicDe novo--Yuen2017 G
MEIS2     AU4483301chr15:
37217300-37217300
AGintronicDe novo--Yuen2017 G
MEIS2     11089.p1chr15:
37322113-37322113
CAintronicDe novo--Turner2016 G
MEIS2     80001104520-31chr15:
37184485-37184485
GAexonicDe novosynonymous SNVNM_170675
NM_170676
NM_001220482
c.C1323T
c.C1302T
c.C1302T
p.H441H
p.H434H
p.H434H
-4.945E-5Satterstrom2020 E
MEIS2     13171.p1chr15:
38148537-38148537
TAintergenicDe novo--Turner2016 G
MEIS2     2-1581-003chr15:
37977890-37977890
GAintergenicDe novo--Yuen2017 G
MEIS2     14104.p1chr15:
37187308-37187308
TGintronicDe novo-2.0E-4Satterstrom2020 E
MEIS2     1-0439-003chr15:
38096391-38096391
GTintergenicDe novo--Yuen2016 G
Yuen2017 G
MEIS2     AU026604chr15:
37194530-37194530
ATintronicDe novo--Yuen2017 G
MEIS2     3-0431-000chr15:
37680558-37680558
ATintergenicDe novo--Yuen2016 G
Yuen2017 G
MEIS2     7-0171-003chr15:
37592404-37592404
CGintergenicDe novo--Yuen2017 G
MEIS2     2-1386-003chr15:
37476370-37476370
TCintergenicDe novo--Yuen2017 G
MEIS2     2-1422-003chr15:
37380139-37380139
GTintronicDe novo--Yuen2016 G
Yuen2017 G
MEIS2     2-1129-003chr15:
38114105-38114105
TAintergenicDe novo--Yuen2016 G
Yuen2017 G
MEIS2     2-1288-003chr15:
37524741-37524741
CTintergenicDe novo--Yuen2017 G
MEIS2     1-0479-006chr15:
38009164-38009164
CTintergenicDe novo--Yuen2017 G
MEIS2     1-0868-003chr15:
37314588-37314588
CAintronicDe novo--Yuen2017 G
MEIS2     2-1105-003chr15:
37285134-37285134
AGintronicDe novo--Yuen2016 G
Yuen2017 G
MEIS2     2-1164-003chr15:
38041661-38041661
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
MEIS2     11469.p1chr15:
37685923-37685927
ATTTGAintergenicDe novo--Wilfert2021 G
MEIS2     2-0208-003chr15:
37686129-37686129
CGintergenicDe novo--Yuen2017 G
MEIS2     1-0454-003chr15:
37531103-37531103
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
MEIS2     HN0265.p1chr15:
37388610-37388610
TCsplicing;exonicPaternalsynonymous SNVNM_172315
NM_002399
NM_170674
NM_170675
NM_170676
NM_170677
NM_001220482
c.A228G
c.A228G
c.A267G
c.A267G
c.A267G
c.A267G
c.A267G
p.L76L
p.L76L
p.L89L
p.L89L
p.L89L
p.L89L
p.L89L
16.661.667E-5Wang2020 T
Wang2020 T
MEIS2     2-1194-003chr15:
37782045-37782045
TCintergenicDe novo--Yuen2016 G
MEIS2     AU3053302chr15:
37802499-37802499
CTintergenicDe novo--Yuen2017 G
MEIS2     1-0065-005chr15:
37985459-37985459
GGATTintergenicDe novo--Yuen2017 G
MEIS2     AU3955303chr15:
37401473-37401473
TCintergenicDe novo--Yuen2017 G
MEIS2     1-0652-004chr15:
37707896-37707896
GTintergenicDe novo--Yuen2017 G
MEIS2     AU031203chr15:
37794221-37794221
ACintergenicDe novo--Yuen2017 G
MEIS2     1-0161-004chr15:
37529885-37529885
GAintergenicDe novo--Yuen2017 G
MEIS2     NDAR_INVGL083HPA_wes1chr15:
37187026-37187026
TTAintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
MEIS2     1-0246-005chr15:
37935940-37935940
GCintergenicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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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