Variant Results

or

Results for "ACHE"

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

ACHE

SSC12556

chr7:
100491403-100491403

C

T

exonic

nonsynonymous SNV

NM_000665
NM_001282449
NM_001302621
NM_001302622
NM_015831

c.G451A
c.G451A
c.G451A
c.G451A
c.G451A

p.G151R
p.G151R
p.G151R
p.G151R
p.G151R

27.7

-

Antaki2022 GE

ACHE

2-0210-004

chr7:
100515333-100515333

T

C

intergenic

De novo

-

Yuen2017 G

ACHE

1-0627-004

chr7:
100528983-100528983

G

A

intergenic

De novo

-

Yuen2017 G

ACHE

AU066403

chr7:
100493424-100493424

T

C

UTR5

De novo

-

Trost2022 G
Yuen2017 G

ACHE

NDAR_INVTW658HK1_wes1

chr7:
100491066-100491066

G

A

exonic

De novo

nonsynonymous SNV

NM_000665
NM_001282449
NM_001302621
NM_001302622
NM_015831

c.C788T
c.C788T
c.C788T
c.C788T
c.C788T

p.P263L
p.P263L
p.P263L
p.P263L
p.P263L

18.76

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ACHE

SP0165342

chr7:
100489969-100489969

G

A

exonic

De novo

synonymous SNV

NM_000665
NM_001282449
NM_001302621
NM_001302622
NM_015831

c.C1539T
c.C1275T
c.C1539T
c.C1539T
c.C1539T

p.N513N
p.N425N
p.N513N
p.N513N
p.N513N

-

Trost2022 G

ACHE

MT_195.3

chr7:
100490547-100490547

C

T

intronic

De novo

-

Trost2022 G

ACHE

SP0025145

chr7:
100490794-100490794

C

T

exonic

De novo

nonsynonymous SNV

NM_000665
NM_001282449
NM_001302621
NM_001302622
NM_015831

c.G1060A
c.G1060A
c.G1060A
c.G1060A
c.G1060A

p.G354S
p.G354S
p.G354S
p.G354S
p.G354S

8.027

-

Trost2022 G
Zhou2022 GE

ACHE

5-0105-003

chr7:
100534273-100534273

T

C

intergenic

De novo

-

Yuen2017 G

ACHE

1-0936-003

chr7:
100531327-100531327

G

A

intergenic

De novo

-

Yuen2017 G

ACHE

MSSNG00062-003

chr7:
100492329-100492329

C

CT

intronic

De novo

-

Trost2022 G

ACHE

14085.p1

chr7:
100488870-100488870

G

A

exonic

De novo

nonsynonymous SNV

NM_000665
NM_001282449
NM_001302621
NM_001302622
NM_015831

c.C1643T
c.C1379T
c.C1643T
c.C1643T
c.C1643T

p.P548L
p.P460L
p.P548L
p.P548L
p.P548L

21.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2014 T
Satterstrom2020 E
Trost2022 G

ACHE

2-1094-005

chr7:
100540787-100540787

C

T

intergenic

De novo

-

Yuen2017 G

ACHE

14533.p1

chr7:
100491403-100491403

C

T

exonic

De novo

nonsynonymous SNV

NM_000665
NM_001282449
NM_001302621
NM_001302622
NM_015831

c.G451A
c.G451A
c.G451A
c.G451A
c.G451A

p.G151R
p.G151R
p.G151R
p.G151R
p.G151R

27.7

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2014 T
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

ACHE

SP0066933

chr7:
100487814-100487814

G

T

UTR3

De novo

-

Fu2022 E
Trost2022 G
Trost2022 G

ACHE

111308

chr7:
100491502-100491502

T

C

exonic

nonsynonymous SNV

NM_000665
NM_001282449
NM_001302621
NM_001302622
NM_015831

c.A352G
c.A352G
c.A352G
c.A352G
c.A352G

p.N118D
p.N118D
p.N118D
p.N118D
p.N118D

21.5

-

Woodbury-Smith2022 E

ACHE

36806

chr7:
100491403-100491403

C

T

exonic

De novo

nonsynonymous SNV

NM_000665
NM_001282449
NM_001302621
NM_001302622
NM_015831

c.G451A
c.G451A
c.G451A
c.G451A
c.G451A

p.G151R
p.G151R
p.G151R
p.G151R
p.G151R

27.7

-

Fu2022 E
Trost2022 G

ACHE

3-0018-000

chr7:
100520712-100520712

G

A

intergenic

De novo

-

Yuen2017 G

ACHE

A1

chr7:
100490343-100490343

C

T

exonic

De novo

nonsynonymous SNV

NM_000665
NM_001302621
NM_001302622
NM_015831

c.G1165A
c.G1165A
c.G1165A
c.G1165A

p.E389K
p.E389K
p.E389K
p.E389K

12.57

-

Jiao2019 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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