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Results for "PI16"

Variant Events: 4

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
PI16     Lim2017:10255chr6:
36931122-36931122
ATexonicDe novononsynonymous SNVNM_153370
NM_001199159
c.A1004T
c.A1004T
p.N335I
p.N335I
10.78-Lim2017 E
PI16     13454.p1chr6:
36931014-36931014
CTexonicDe novononsynonymous SNVNM_153370
NM_001199159
c.C896T
c.C896T
p.S299F
p.S299F
11.76-Ji2016 E
Krumm2015 E
Satterstrom2020 E
PI16     09C81577chr6:
36926932-36926932
GAexonicDe novosynonymous SNVNM_153370
NM_001199159
c.G183A
c.G183A
p.E61E
p.E61E
--DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
PI16     10255chr6:
36931122-36931122
ATexonicDe novononsynonymous SNVNM_153370
NM_001199159
c.A1004T
c.A1004T
p.N335I
p.N335I
10.78-Satterstrom2020 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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