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Results for "EHMT1"

Variant Events: 50

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
EHMT1     REACH000145chr9:
140628292-140628292
TCintronicDe novo--Trost2022 G
EHMT1     REACH000751chr9:
140650614-140650614
GAintronicDe novo--Trost2022 G
EHMT1     7-0379-003chr9:
140609905-140609905
GAintronicDe novo--Trost2022 G
EHMT1     2-1086-004chr9:
140665386-140665386
TGintronicDe novo--Trost2022 G
Yuen2017 G
EHMT1     2-1411-003chr9:
140692358-140692358
CAintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
EHMT1     5-5046-006chr9:
140621880-140621880
TCintronicDe novo--Trost2022 G
EHMT1     4-0026-003chr9:
140569912-140569916
TTTTATintronicDe novo--Trost2022 G
EHMT1     MSSNG00032-004chr9:
140605175-140605175
GAintronicDe novo--Trost2022 G
EHMT1     Ishay2021:11chr9:
140622948-140622948
CTexonicDe novostopgainNM_001145527
NM_024757
c.C790T
c.C790T
p.Q264X
p.Q264X
38.0-Ishay2021 E
EHMT1     2-1322-004chr9:
140553212-140553212
ACintronicDe novo--Trost2022 G
EHMT1     2-1322-004chr9:
140553282-140553282
GCintronicDe novo--Trost2022 G
EHMT1     273-07-108464chr9:
140638338-140638338
CGintronicDe novo--Satterstrom2020 E
Trost2022 G
EHMT1     Chen2021:6chr9:
140711901-140711901
CTexonicDe novostopgainNM_024757c.C3385Tp.Q1129X41.0-Chen2021 GET
EHMT1     1-1111-003chr9:
140727078-140727078
GTintronicDe novo--Trost2022 G
EHMT1     MT_168.3chr9:
140675505-140675505
CTintronicDe novo--Trost2022 G
EHMT1     MSSNG00008-004chr9:
140695579-140695579
GCintronicDe novo--Trost2022 G
EHMT1     7-0223-003chr9:
140626913-140626913
CTintronicDe novo--Trost2022 G
Yuen2017 G
EHMT1     AU066404chr9:
140670807-140670807
GTintronicDe novo--Trost2022 G
Yuen2017 G
EHMT1     DEASD_1089_001chr9:
140728977-140728977
GTsplicingDe novosplicing13.65-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
EHMT1     SP0142323chr9:
140657213-140657213
CTexonicDe novostopgainNM_001145527
NM_024757
c.C1588T
c.C1588T
p.R530X
p.R530X
39.0-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
EHMT1     SP0328438chr9:
140611095-140611095
GAexonicnonsynonymous SNVNM_001145527
NM_024757
c.G103A
c.G103A
p.D35N
p.D35N
28.42.707E-5Zhou2022 GE
EHMT1     P042chr9:
140646776-140646776
TCintronicPaternal--Long2019 ET
EHMT1     SP0086089chr9:
140671136-140671136
CTexonicstopgainNM_001145527
NM_024757
c.C1858T
c.C1858T
p.R620X
p.R620X
37.0-Zhou2022 GE
EHMT1     2-1352-003chr9:
140710435-140710435
CGexonicInheritednonsynonymous SNVNM_024757c.C3295Gp.P1099A33.0-Jiang2013 G
EHMT1     SP0017692chr9:
140693284-140693284
GAexonicDe novononsynonymous SNVNM_024757c.G2525Ap.C842Y21.3-Antaki2022 GE
Fu2022 E
Zhou2022 GE
EHMT1     AU2139305chr9:
140702954-140702954
AGintronicDe novo--Trost2022 G
Yuen2017 G
EHMT1     11104.p1chr9:
140652286-140652286
GAintronicMosaic--Dou2017 E
EHMT1     Yin2020:104chr9:
140638361-140638361
ATexonicnonsynonymous SNVNM_001145527
NM_024757
c.A989T
c.A989T
p.K330M
p.K330M
20.9-Yin2020 T
EHMT1     SP0078831chr9:
140672499-140672499
CTexonicDe novosynonymous SNVNM_001145527
NM_024757
c.C2184T
c.C2184T
p.D728D
p.D728D
-8.305E-6Fu2022 E
Trost2022 G
Zhou2022 GE
EHMT1     SP0126771chr9:
140710493-140710493
GAexonicDe novononsynonymous SNVNM_024757c.G3353Ap.R1118H24.7-Fu2022 E
Trost2022 G
Zhou2022 GE
EHMT1     SP0134227chr9:
140605324-140605324
GTintronicDe novo--Fu2022 E
EHMT1     Alvarez-Mora2016:ASD-14chr9:
140672377-140672377
GAexonicUnknownnonsynonymous SNVNM_001145527
NM_024757
c.G2062A
c.G2062A
p.A688T
p.A688T
2.152-Alvarez-Mora2016 T
EHMT1     Yin2020:041chr9:
140657138-140657138
GAexonicnonsynonymous SNVNM_001145527
NM_024757
c.G1513A
c.G1513A
p.G505S
p.G505S
20.74.948E-5Yin2020 T
EHMT1     7-0368-003chr9:
140611534-140611534
AAGexonicDe novoframeshift insertionNM_001145527
NM_024757
c.543dupG
c.543dupG
p.E181fs
p.E181fs
--Trost2022 G
Zhou2022 GE
EHMT1     11809.p1chr9:
140729361-140729361
GCexonicnonsynonymous SNVNM_024757c.G3853Cp.G1285R16.58-Zhou2022 GE
EHMT1     7-0048-003 Complex Event; expand row to view variants  De novononsynonymous SNV, frameshift deletionNM_001145527
NM_024757
NM_001145527
NM_024757
c.1357delA
c.1357delA
c.G1358T
c.G1358T
p.S453fs
p.S453fs
p.S453I
p.S453I
15.65-Trost2022 G
Trost2022 G
Zhou2022 GE
Zhou2022 GE
EHMT1     Ohashi2021:ASD-062chr9:
140672501-140672501
CTexonicnonsynonymous SNVNM_001145527
NM_024757
c.C2186T
c.C2186T
p.S729L
p.S729L
21.85.815E-5Ohashi2021 ET
EHMT1     Mahjani2021:98chr9:
140638516-140638516
AATexonicframeshift insertionNM_001145527
NM_024757
c.1145dupT
c.1145dupT
p.M382fs
p.M382fs
--Mahjani2021 E
EHMT1     ASC_11480-1chr9:
140707527-140707527
GAexonicDe novosynonymous SNVNM_024757c.G2937Ap.A979A-8.246E-6Fu2022 E
EHMT1     Mahjani2021:99chr9:
140652430-140652430
CTexonicstopgainNM_001145527
NM_024757
c.C1468T
c.C1468T
p.R490X
p.R490X
39.0-Mahjani2021 E
EHMT1     MAC1432chr9:
140710515-140710515
GAsplicingDe novosplicing22.5-Fu2022 E
EHMT1     Yamamoto2019:8chr9:
140708886-140708886
TCexonicDe novononsynonymous SNVNM_024757c.T3184Cp.C1062R18.01-Yamamoto2019 T
EHMT1     Alvarez-Mora2016:ASD-27chr9:
140707849-140707849
GAexonicMaternalnonsynonymous SNVNM_024757c.G3047Ap.R1016Q17.44-Alvarez-Mora2016 T
EHMT1     2-1406-003chr9:
140579027-140579027
TAintronicDe novo--Yuen2016 G
EHMT1     1-0186-004chr9:
140678989-140678989
TGintronicDe novo--Trost2022 G
Yuen2017 G
EHMT1     Hu2022:17chr9:
140678599-140678599
GAexonicMaternalstopgainNM_001145527c.G2424Ap.W808X14.03-Hu2022 T
EHMT1     MSSNG00431-003chr9:
140528313-140528313
GAintronicDe novo--Trost2022 G
EHMT1     MSSNG00044-003chr9:
140530145-140530145
GAintronicDe novo--Trost2022 G
EHMT1     5901026096961-Cchr9:
140622948-140622948
CTexonicDe novostopgainNM_001145527
NM_024757
c.C790T
c.C790T
p.Q264X
p.Q264X
38.0-Fu2022 E
EHMT1     MSSNG00345-003chr9:
140521567-140521567
CTintronicDe 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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