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Results for "EHMT1"

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
EHMT1     DEASD_1089_001chr9:
140728977-140728977
GTsplicingDe novosplicing13.65-Satterstrom2020 E
EHMT1     2-1086-004chr9:
140665386-140665386
TGintronicDe novo--Yuen2017 G
EHMT1     2-1411-003chr9:
140692358-140692358
CAintronicDe novo--Yuen2016 G
Yuen2017 G
EHMT1     Yin2020:041chr9:
140657138-140657138
GAexonicnonsynonymous SNVNM_001145527
NM_024757
c.G1513A
c.G1513A
p.G505S
p.G505S
20.74.948E-5Yin2020 T
EHMT1     2-1406-003chr9:
140579027-140579027
TAintronicDe novo--Yuen2016 G
EHMT1     P042chr9:
140646776-140646776
TCintronicPaternal--Long2019 ET
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     273-07-108464chr9:
140638338-140638338
CGintronicDe novo--Satterstrom2020 E
EHMT1     2-1352-003chr9:
140710435-140710435
CGexonicInheritednonsynonymous SNVNM_024757c.C3295Gp.P1099A33.0-Jiang2013 G
EHMT1     1-0186-004chr9:
140678989-140678989
TGintronicDe novo--Yuen2017 G
EHMT1     Mahjani2021:98chr9:
140638516-140638516
AATexonicframeshift insertionNM_001145527
NM_024757
c.1145dupT
c.1145dupT
p.M382fs
p.M382fs
--Mahjani2021 E
EHMT1     Mahjani2021:99chr9:
140652430-140652430
CTexonicstopgainNM_001145527
NM_024757
c.C1468T
c.C1468T
p.R490X
p.R490X
39.0-Mahjani2021 E
EHMT1     AU2139305chr9:
140702954-140702954
AGintronicDe novo--Yuen2017 G
EHMT1     Yamamoto2019:8chr9:
140708886-140708886
TCexonicDe novononsynonymous SNVNM_024757c.T3184Cp.C1062R18.01-Yamamoto2019 T
EHMT1     7-0223-003chr9:
140626913-140626913
CTintronicDe novo--Yuen2017 G
EHMT1     AU066404chr9:
140670807-140670807
GTintronicDe novo--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
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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