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Results for "AMPH"

Variant Events: 13

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
AMPH     2-1105-003chr7:
38633945-38633945
GTintronicDe novo--Yuen2016 G
Yuen2017 G
AMPH     2-1382-003chr7:
38704385-38704385
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
AMPH     AU0146301chr7:
38511267-38511267
GAintronicDe novo--Yuen2017 G
AMPH     1-0286-004chr7:
38634071-38634071
GCintronicDe novo--Yuen2017 G
AMPH     P1225chr7:
38431556-38431556
GAexonicDe novosynonymous SNVNM_139316
NM_001635
c.C1545T
c.C1671T
p.N515N
p.N557N
1.0468.242E-6Hashimoto2016 E
AMPH     2-1186-003chr7:
38601835-38601835
TCintronicDe novo--Yuen2016 G
Yuen2017 G
AMPH     2-1431-003chr7:
38449125-38449125
TCintronicDe novo--Yuen2016 G
Yuen2017 G
AMPH     2-1374-003chr7:
38611184-38611184
AGintronicDe novo--Yuen2017 G
AMPH     2-1730-003chr7:
38467754-38467754
GAintronicDe novo--Yuen2017 G
AMPH     PN400584chr7:
38431556-38431556
GAexonicDe novosynonymous SNVNM_139316
NM_001635
c.C1545T
c.C1671T
p.N515N
p.N557N
1.0468.242E-6Leblond2019 E
AMPH     3-0442-000chr7:
38503222-38503222
TCintronicDe novo--Yuen2016 G
Yuen2017 G
AMPH     7-0250-003chr7:
38719900-38719900
AGintergenicDe novo--Yuen2017 G
AMPH     1-0304-003chr7:
38479273-38479273
TCintronicDe novo--Yuen2016 G
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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