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Results for "ACOT7"

Variant Events: 8

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
ACOT7     2-1280-003chr1:
6368683-6368683
AGintronicDe novo--Yuen2017 G
ACOT7     AU3645301chr1:
6453930-6453930
GTupstreamDe novo--Yuen2017 G
ACOT7     DEASD_0088_001chr1:
6420658-6420658
TCexonicDe novononsynonymous SNVNM_181865c.A55Gp.R19G5.9838.242E-6DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
ACOT7     AU4433301chr1:
6370254-6370254
GAintronicDe novo--Yuen2017 G
ACOT7     1-0206-003chr1:
6397177-6397177
CTintronicDe novo--Yuen2017 G
ACOT7     1-0443-003chr1:
6339632-6339632
GAintronicDe novo--Yuen2016 G
ACOT7     1-0226-005chr1:
6383123-6383123
AAAGTTintronicDe novo--Yuen2017 G
ACOT7     AU2089302chr1:
6388945-6388945
GAintronicDe novo--Yuen2017 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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