Variant Results

or

Results for "EHMT1"

Variant Events: 31

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

Alvarez-Mora2016:ASD-14

chr9:
140672377-140672377

G

A

exonic

Unknown

nonsynonymous SNV

NM_001145527
NM_024757

c.G2062A
c.G2062A

p.A688T
p.A688T

2.152

-

Alvarez-Mora2016 T

EHMT1

2-1086-004

chr9:
140665386-140665386

T

G

intronic

De novo

-

Yuen2017 G

EHMT1

2-1411-003

chr9:
140692358-140692358

C

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

EHMT1

Yin2020:041

chr9:
140657138-140657138

G

A

exonic

nonsynonymous SNV

NM_001145527
NM_024757

c.G1513A
c.G1513A

p.G505S
p.G505S

20.7

4.948E-5

Yin2020 T

EHMT1

Ishay2021:11

chr9:
140622948-140622948

C

T

exonic

De novo

stopgain

NM_001145527
NM_024757

c.C790T
c.C790T

p.Q264X
p.Q264X

38.0

-

Ishay2021 E

EHMT1

Ohashi2021:ASD-062

chr9:
140672501-140672501

C

T

exonic

nonsynonymous SNV

NM_001145527
NM_024757

c.C2186T
c.C2186T

p.S729L
p.S729L

21.8

5.815E-5

Ohashi2021 ET

EHMT1

273-07-108464

chr9:
140638338-140638338

C

G

intronic

De novo

-

Satterstrom2020 E

EHMT1

Chen2021:6

chr9:
140711901-140711901

C

T

exonic

De novo

stopgain

NM_024757

c.C3385T

p.Q1129X

41.0

-

Chen2021 GET

EHMT1

Mahjani2021:98

chr9:
140638516-140638516

A

AT

exonic

frameshift insertion

NM_001145527
NM_024757

c.1145dupT
c.1145dupT

p.M382fs
p.M382fs

-

Mahjani2021 E

EHMT1

ASC_11480-1

chr9:
140707527-140707527

G

A

exonic

De novo

synonymous SNV

NM_024757

c.G2937A

p.A979A

-

8.246E-6

Fu2022 E

EHMT1

Mahjani2021:99

chr9:
140652430-140652430

C

T

exonic

stopgain

NM_001145527
NM_024757

c.C1468T
c.C1468T

p.R490X
p.R490X

39.0

-

Mahjani2021 E

EHMT1

MAC1432

chr9:
140710515-140710515

G

A

splicing

De novo

splicing

22.5

-

Fu2022 E

EHMT1

Yamamoto2019:8

chr9:
140708886-140708886

T

C

exonic

De novo

nonsynonymous SNV

NM_024757

c.T3184C

p.C1062R

18.01

-

Yamamoto2019 T

EHMT1

Alvarez-Mora2016:ASD-27

chr9:
140707849-140707849

G

A

exonic

Maternal

nonsynonymous SNV

NM_024757

c.G3047A

p.R1016Q

17.44

-

Alvarez-Mora2016 T

EHMT1

7-0223-003

chr9:
140626913-140626913

C

T

intronic

De novo

-

Yuen2017 G

EHMT1

AU066404

chr9:
140670807-140670807

G

T

intronic

De novo

-

Yuen2017 G

EHMT1

DEASD_1089_001

chr9:
140728977-140728977

G

T

splicing

De novo

splicing

13.65

-

Fu2022 E
Satterstrom2020 E

EHMT1

SP0142323

chr9:
140657213-140657213

C

T

exonic

De novo

stopgain

NM_001145527
NM_024757

c.C1588T
c.C1588T

p.R530X
p.R530X

39.0

-

Antaki2022 GE
Fu2022 E

EHMT1

2-1406-003

chr9:
140579027-140579027

T

A

intronic

De novo

-

Yuen2016 G

EHMT1

P042

chr9:
140646776-140646776

T

C

intronic

Paternal

-

Long2019 ET

EHMT1

2-1352-003

chr9:
140710435-140710435

C

G

exonic

Inherited

nonsynonymous SNV

NM_024757

c.C3295G

p.P1099A

33.0

-

Jiang2013 G

EHMT1

SP0017692

chr9:
140693284-140693284

G

A

exonic

De novo

nonsynonymous SNV

NM_024757

c.G2525A

p.C842Y

21.3

-

Antaki2022 GE
Fu2022 E

EHMT1

1-0186-004

chr9:
140678989-140678989

T

G

intronic

De novo

-

Yuen2017 G

EHMT1

Hu2022:17

chr9:
140678599-140678599

G

A

exonic

Maternal

stopgain

NM_001145527

c.G2424A

p.W808X

14.03

-

Hu2022 T

EHMT1

AU2139305

chr9:
140702954-140702954

A

G

intronic

De novo

-

Yuen2017 G

EHMT1

11104.p1

chr9:
140652286-140652286

G

A

intronic

Mosaic

-

Dou2017 E

EHMT1

Yin2020:104

chr9:
140638361-140638361

A

T

exonic

nonsynonymous SNV

NM_001145527
NM_024757

c.A989T
c.A989T

p.K330M
p.K330M

20.9

-

Yin2020 T

EHMT1

5901026096961-C

chr9:
140622948-140622948

C

T

exonic

De novo

stopgain

NM_001145527
NM_024757

c.C790T
c.C790T

p.Q264X
p.Q264X

38.0

-

Fu2022 E

EHMT1

SP0078831

chr9:
140672499-140672499

C

T

exonic

De novo

synonymous SNV

NM_001145527
NM_024757

c.C2184T
c.C2184T

p.D728D
p.D728D

-

8.305E-6

Fu2022 E

EHMT1

SP0126771

chr9:
140710493-140710493

G

A

exonic

De novo

nonsynonymous SNV

NM_024757

c.G3353A

p.R1118H

24.7

-

Fu2022 E

EHMT1

SP0134227

chr9:
140605324-140605324

G

T

intronic

De novo

-

Fu2022 E

Source Variant Information

, -

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 notes	View
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