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Results for "ZMYM2"

Variant Events: 19

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
ZMYM2     7-0253-004chr13:
20552413-20552417
TAACATAintronicDe novo--Yuen2017 G
ZMYM2     SD0079.p1chr13:
20605532-20605532
GCexonicUnknownnonsynonymous SNVNM_001190965
NM_197968
NM_001190964
NM_003453
c.G1925C
c.G1925C
c.G1925C
c.G1925C
p.C642S
p.C642S
p.C642S
p.C642S
31.0-Guo2018 T
ZMYM2     388861chr13:
20638676-20638677
TATexonicUnknownframeshift deletionNM_001190965
NM_197968
NM_001190964
NM_003453
c.3124delA
c.3124delA
c.3124delA
c.3124delA
p.K1042fs
p.K1042fs
p.K1042fs
p.K1042fs
-7.0E-4Wang2020 T
Wang2020 T
ZMYM2     7-0273-003chr13:
20672181-20672181
CGintergenicDe novo--Yuen2017 G
ZMYM2     389279chr13:
20593739-20593739
CCTAexonicUnknownframeshift insertionNM_001190965
NM_197968
NM_001190964
NM_003453
c.1565_1566insTA
c.1565_1566insTA
c.1565_1566insTA
c.1565_1566insTA
p.S522fs
p.S522fs
p.S522fs
p.S522fs
--Wang2020 T
Wang2020 T
ZMYM2     09C95788chr13:
20641159-20641163
TGTAATsplicingDe novosplicing-8.711E-6Neale2012 E
O’Roak2014 T
Willsey2013 E
ZMYM2     211-5312-3 Complex Event; expand row to view variants  Inherited, Unknownsplicing-8.711E-6Stessman2017 T
Wang2020 T
Wang2020 T
ZMYM2     iHART1641chr13:
20657897-20657897
GTexonicMaternalstopgainNM_001190965
NM_197968
NM_001190964
NM_003453
c.G3922T
c.G3922T
c.G3922T
c.G3922T
p.E1308X
p.E1308X
p.E1308X
p.E1308X
41.0-Ruzzo2019 G
ZMYM2     2363chr13:
20580517-20580517
CTexonicUnknownnonsynonymous SNVNM_001190965
NM_197968
NM_001190964
NM_003453
c.C1303T
c.C1303T
c.C1303T
c.C1303T
p.R435C
p.R435C
p.R435C
p.R435C
23.9-Wang2020 T
Wang2020 T
ZMYM2     iHART1643chr13:
20657897-20657897
GTexonicMaternalstopgainNM_001190965
NM_197968
NM_001190964
NM_003453
c.G3922T
c.G3922T
c.G3922T
c.G3922T
p.E1308X
p.E1308X
p.E1308X
p.E1308X
41.0-Ruzzo2019 G
ZMYM2     A10chr13:
20550001-20550001
ATintronicDe novo--Wu2018 G
ZMYM2     555.03chr13:
20660089-20660089
CTexonicUnknownnonsynonymous SNVNM_001190965
NM_197968
NM_001190964
NM_003453
c.C4069T
c.C4069T
c.C4069T
c.C4069T
p.R1357W
p.R1357W
p.R1357W
p.R1357W
20.58.302E-6Wang2020 T
Wang2020 T
ZMYM2     1-0051-005chr13:
20570559-20570559
CTintronicDe novo--Yuen2017 G
ZMYM2     86150547chr13:
20567402-20567402
GAexonicUnknownnonsynonymous SNVNM_001190965
NM_197968
NM_001190964
NM_003453
c.G190A
c.G190A
c.G190A
c.G190A
p.E64K
p.E64K
p.E64K
p.E64K
25.3-Wang2020 T
Wang2020 T
ZMYM2     SF0127162.p1chr13:
20656987-20656987
CTexonicDe novononsynonymous SNVNM_001190965
NM_197968
NM_001190964
NM_003453
c.C3635T
c.C3635T
c.C3635T
c.C3635T
p.P1212L
p.P1212L
p.P1212L
p.P1212L
24.7-Wang2020 T
ZMYM2     AU4154303chr13:
20647709-20647709
GTintronicDe novo--Yuen2017 G
ZMYM2     SF0004234.p1chr13:
20580618-20580619
ACAexonicDe novoframeshift deletionNM_001190965
NM_197968
NM_001190964
NM_003453
c.1405delC
c.1405delC
c.1405delC
c.1405delC
p.Q469fs
p.Q469fs
p.Q469fs
p.Q469fs
--Wang2020 T
ZMYM2     2761chr13:
20608530-20608531
CTCexonicDe novoframeshift deletionNM_001190965
NM_197968
NM_001190964
NM_003453
c.2106delT
c.2106delT
c.2106delT
c.2106delT
p.P702fs
p.P702fs
p.P702fs
p.P702fs
--Wang2020 T
Wang2020 T
ZMYM2     BK_627.02chr13:
20632842-20632842
CTexonicUnknownnonsynonymous SNVNM_001190965
NM_197968
NM_001190964
NM_003453
c.C2621T
c.C2621T
c.C2621T
c.C2621T
p.T874I
p.T874I
p.T874I
p.T874I
25.1-Wang2020 T
Wang2020 T
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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