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Results for "ZMYM2"

Variant Events: 29

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     ACGC_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
ZMYM2     SAGE_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
ZMYM2     SAGE_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
ZMYM2     SMHC01629s000chr13:
20632803-20632803		CCTexonicDe novoframeshift insertionNM_001190965
NM_197968
NM_001190964
NM_003453		c.2583dupT
c.2583dupT
c.2583dupT
c.2583dupT		p.T861fs
p.T861fs
p.T861fs
p.T861fs		--Yuan2023 E
ZMYM2     A10chr13:
20550001-20550001		ATintronicDe novo--Wu2018 G
ZMYM2     1-0051-005chr13:
20570559-20570559		CTintronicDe novo--Yuen2017 G
ZMYM2     SF0127162.p1chr13:
20656987-20656987		CTexonicnonsynonymous 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     SF0004234.p1chr13:
20580618-20580619		ACAexonicframeshift 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     SP0004234chr13:
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		--Antaki2022 GE
Fu2022 E
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     Gecz2_28984chr13:
20567845-20567846		CTCexonicUnknownstopgainNM_001190965
NM_197968
NM_001190964
NM_003453		c.634delT
c.634delT
c.634delT
c.634delT		p.L212X
p.L212X
p.L212X
p.L212X		--Wang2020 T
ZMYM2     7-0273-003chr13:
20672181-20672181		CGintergenicDe novo--Yuen2017 G
ZMYM2     Gecz2_28983chr13:
20567845-20567846		CTCexonicUnknownstopgainNM_001190965
NM_197968
NM_001190964
NM_003453		c.634delT
c.634delT
c.634delT
c.634delT		p.L212X
p.L212X
p.L212X
p.L212X		--Wang2020 T
ZMYM2     TASC_211-5312-3chr13:
20641159-20641163		TGTAATsplicingUnknownsplicing-8.711E-6Wang2020 T
ZMYM2     09C95788chr13:
20641159-20641163		TGTAATsplicingDe novosplicing-8.711E-6Neale2012 E
O’Roak2014 T
Willsey2013 E
ZMYM2     Gecz3_42150chr13:
20567845-20567846		CTCexonicUnknownstopgainNM_001190965
NM_197968
NM_001190964
NM_003453		c.634delT
c.634delT
c.634delT
c.634delT		p.L212X
p.L212X
p.L212X
p.L212X		--Wang2020 T
ZMYM2     09C81985chr13:
20641159-20641163		TGTAATsplicingDe novosplicing-8.711E-6Fu2022 E
ZMYM2     SP0127162chr13:
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-Fu2022 E
ZMYM2     211-5312-3chr13:
20641160-20641164		GTAAGGsplicingInheritedsplicing--Stessman2017 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     Leuven2_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
ZMYM2     TRE_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		--Fu2022 E
ZMYM2     SP0055384chr13:
20657000-20657000		GCexonicDe novosynonymous SNVNM_001190965
NM_197968
NM_001190964
NM_003453		c.G3648C
c.G3648C
c.G3648C
c.G3648C		p.L1216L
p.L1216L
p.L1216L
p.L1216L		--Fu2022 E
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     Leuven_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
ZMYM2     AU4154303chr13:
20647709-20647709		GTintronicDe novo--Yuen2017 G
ZMYM2     Leuven_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
ZMYM2     ITAN_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
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
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