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Results for "ATR"

Variant Events: 14

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
ATR     SSC05199chr3:
142185303-142185303
TCexonicMosaicnonsynonymous SNVNM_001184c.A6760Gp.T2254A14.61-Lim2017 E
ATR     2-1690-003chr3:
142239171-142239171
GAintronicDe novo--Yuen2017 G
ATR     AU0786305chr3:
142312430-142312430
CTintergenicDe novo--Yuen2017 G
ATR     12611.p1chr3:
142185303-142185303
TCexonicMosaic, De novononsynonymous SNVNM_001184c.A6760Gp.T2254A14.61-Dou2017 E
Ji2016 E
Krumm2015 E
Krupp2017 E
ATR     Li2017:16223chr3:
142261554-142261555
TATexonicUnknownframeshift deletionNM_001184c.3402delTp.F1134fs--Li2017 T
ATR     AU059903chr3:
142195803-142195803
GCintronicDe novo--Yuen2017 G
ATR     iHART1717chr3:
142168383-142168383
CCTexonicPaternalframeshift insertionNM_001184c.7822dupAp.R2608fs--Ruzzo2019 G
ATR     A19chr3:
142203846-142203846
TCintronicDe novo--Wu2018 G
ATR     Li2017:19708chr3:
142188964-142188964
GTexonicUnknownnonsynonymous SNVNM_001184c.C6283Ap.L2095I23.3-Li2017 T
ATR     2-1223-003chr3:
142176850-142176850
CTintronicDe novo--Yuen2017 G
ATR     1-0567-004chr3:
142246157-142246157
TCintronicDe novo--Yuen2017 G
ATR     Cukier2014:17545chr3:
142281298-142281298
CTexonicUnknownnonsynonymous SNVNM_001184c.G946Ap.V316I13.520.0189Cukier2014 E
ATR     AU3052303chr3:
142253988-142253988
TCexonicDe novosynonymous SNVNM_001184c.A3879Gp.Q1293Q--Yuen2017 G
ATR     Li2017:18347chr3:
142285059-142285059
CTexonicUnknownnonsynonymous SNVNM_001184c.G196Ap.V66M21.53.295E-5Li2017 T
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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