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Results for "SERTAD2"

Variant Events: 15

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
SERTAD2     14661.p1chr2:
64863430-64863430
CTexonicDe novosynonymous SNVNM_014755c.G576Ap.A192A-3.299E-5Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
SERTAD2     AU3918302chr2:
64913834-64913834
GCintergenicDe novo--Yuen2017 G
SERTAD2     1-0383-003chr2:
64931992-64931995
CTTTCTintergenicDe novo--Yuen2017 G
SERTAD2     AU056604chr2:
64868691-64868691
TAintronicDe novo--Yuen2017 G
SERTAD2     Lim2017:37323chr2:
64863430-64863430
CTexonicDe novosynonymous SNVNM_014755c.G576Ap.A192A-3.299E-5Lim2017 E
SERTAD2     1-0196-005chr2:
64916925-64916925
TCintergenicDe novo--Yuen2017 G
SERTAD2     1-0508-003chr2:
64949853-64949853
TCintergenicDe novo--Yuen2017 G
SERTAD2     1-0384-003chr2:
64972551-64972551
TCintergenicDe novo--Yuen2017 G
SERTAD2     AU4376301chr2:
64857760-64857760
CTdownstreamDe novo--Yuen2017 G
SERTAD2     AU3918301chr2:
65017691-65017691
TGintergenicDe novo--Yuen2017 G
SERTAD2     AU4444304chr2:
65038762-65038762
GAintergenicDe novo--Yuen2017 G
SERTAD2     AU4093302chr2:
64935569-64935569
GAintergenicDe novo--Yuen2017 G
SERTAD2     AU4234303chr2:
64872955-64872955
AGintronicDe novo--Yuen2017 G
SERTAD2     AU002406chr2:
65001244-65001244
CTintergenicDe novo--Yuen2017 G
SERTAD2     AU4315302chr2:
64906228-64906236
AAAGATAAGAAAGintergenicDe 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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