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Results for "ACHE"

Variant Events: 12

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     1-0936-003chr7:
100531327-100531327
GAintergenicDe novo--Yuen2017 G
ACHE     2-0210-004chr7:
100515333-100515333
TCintergenicDe novo--Yuen2017 G
ACHE     1-0627-004chr7:
100528983-100528983
GAintergenicDe novo--Yuen2017 G
ACHE     AU066403chr7:
100493424-100493424
TCUTR5De novo--Yuen2017 G
ACHE     14085.p1chr7:
100488870-100488870
GAexonicDe novononsynonymous SNVNM_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
ACHE     NDAR_INVTW658HK1_wes1chr7:
100491066-100491066
GAexonicDe novononsynonymous SNVNM_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
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
ACHE     2-1094-005chr7:
100540787-100540787
CTintergenicDe novo--Yuen2017 G
ACHE     14533.p1chr7:
100491403-100491403
CTexonicDe novononsynonymous SNVNM_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
ACHE     111308chr7:
100491502-100491502
TCexonicnonsynonymous SNVNM_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     3-0018-000chr7:
100520712-100520712
GAintergenicDe novo--Yuen2017 G
ACHE     5-0105-003chr7:
100534273-100534273
TCintergenicDe novo--Yuen2017 G
ACHE     A1chr7:
100490343-100490343
CTexonicDe novononsynonymous SNVNM_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

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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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