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Results for "LOC646813"

Variant Events: 64

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
LOC646813   1-0232-004chr11:
51208525-51208525
CAintergenicDe novo--Yuen2017 G
LOC646813   2-1194-003chr11:
50704114-50704114
AGintergenicDe novo--Yuen2017 G
LOC646813   1-0467-005chr11:
51313646-51313646
GAintergenicDe novo--Yuen2017 G
LOC646813   1-0051-005chr11:
51243951-51243951
TTAintergenicDe novo--Yuen2017 G
LOC646813   1-0051-004chr11:
51243951-51243951
TTAintergenicDe novo--Yuen2017 G
LOC646813   2-1352-003chr11:
50592879-50592879
AGintergenicDe novo--Yuen2017 G
LOC646813   7-0168-003chr11:
51330065-51330065
CTintergenicDe novo--Yuen2017 G
LOC646813   AU4056302chr11:
50389175-50389175
TAintergenicDe novo--Yuen2017 G
LOC646813   1-0141-003chr11:
51243951-51243951
TTAintergenicDe novo--Yuen2017 G
LOC646813   2-1391-004chr11:
51243951-51243951
TTAintergenicDe novo--Yuen2017 G
LOC646813   AU0146301chr11:
50666387-50666387
TGintergenicDe novo--Yuen2017 G
LOC646813   AU043804chr11:
50732114-50732114
CTintergenicDe novo--Yuen2017 G
LOC646813   AU043804chr11:
50772492-50772492
TCintergenicDe novo--Yuen2017 G
LOC646813   AU061003chr11:
50426944-50426946
AGGAGintergenicDe novo--Yuen2017 G
LOC646813   7-0273-003chr11:
51170613-51170613
GCintergenicDe novo--Yuen2017 G
LOC646813   1-0683-004chr11:
51243951-51243951
TTAintergenicDe novo--Yuen2017 G
LOC646813   7-0024-003chr11:
51291652-51291652
AAGintergenicDe novo--Yuen2017 G
LOC646813   1-0007-003chr11:
51326246-51326246
GAintergenicDe novo--Yuen2017 G
LOC646813   2-1729-003chr11:
51408103-51408103
GAintergenicDe novo--Yuen2017 G
LOC646813   AU0780301chr11:
50602658-50602658
TCintergenicDe novo--Yuen2017 G
LOC646813   AU3371303chr11:
51327033-51327033
GAintergenicDe novo--Yuen2017 G
LOC646813   1-0368-004chr11:
51366894-51366894
AACGintergenicDe novo--Yuen2017 G
LOC646813   7-0143-003chr11:
50710090-50710090
GCintergenicDe novo--Yuen2017 G
LOC646813   AU038703chr11:
50743767-50743767
AGintergenicDe novo--Yuen2017 G
LOC646813   2-1134-003chr11:
50410727-50410727
CTintergenicDe novo--Yuen2017 G
LOC646813   1-0336-004chr11:
50448275-50448275
CTintergenicDe novo--Yuen2017 G
LOC646813   AU028305chr11:
51270943-51270943
ATintergenicDe novo--Yuen2017 G
LOC646813   1-0006-003chr11:
51243951-51243951
TTAintergenicDe novo--Yuen2017 G
LOC646813   AU4089302chr11:
50638449-50638449
CTintergenicDe novo--Yuen2017 G
LOC646813   1-0169-003chr11:
50472642-50472642
CAintergenicDe novo--Yuen2017 G
LOC646813   1-0218-003chr11:
51227696-51227696
CGintergenicDe novo--Yuen2017 G
LOC646813   AU4344301chr11:
50515863-50515863
GAintergenicDe novo--Yuen2017 G
LOC646813   AU4129303chr11:
51365972-51365972
ATintergenicDe novo--Yuen2017 G
LOC646813   AU4015301chr11:
50672824-50672824
GCintergenicDe novo--Yuen2017 G
LOC646813   AU4239301chr11:
50650017-50650017
GCintergenicDe novo--Yuen2017 G
LOC646813   AU4013301chr11:
50546225-50546225
CTintergenicDe novo--Yuen2017 G
LOC646813   2-1296-003chr11:
50646429-50646429
GTintergenicDe novo--Yuen2017 G
LOC646813   1-0162-004chr11:
51313643-51313643
TCintergenicDe novo--Yuen2017 G
LOC646813   1-0112-004chr11:
51314560-51314560
TTGGintergenicDe novo--Yuen2017 G
LOC646813   A15chr11:
51245118-51245118
GAintergenicDe novo--Wu2018 G
LOC646813   2-1306-003chr11:
51243951-51243951
TTAintergenicDe novo--Yuen2017 G
LOC646813   1-0332-003chr11:
51291652-51291652
AAGintergenicDe novo--Yuen2017 G
LOC646813   2-1261-004chr11:
51243937-51243937
ATintergenicDe novo--Yuen2017 G
LOC646813   2-1402-003chr11:
50656311-50656311
ACintergenicDe novo--Yuen2017 G
LOC646813   1-0382-003chr11:
51343703-51343703
GGAGTintergenicDe novo--Yuen2017 G
LOC646813   1-0497-003chr11:
50667036-50667036
GAintergenicDe novo--Yuen2017 G
LOC646813   1-0067-004chr11:
51296992-51296992
CTintergenicDe novo--Yuen2017 G
LOC646813   1-0010-003chr11:
50456585-50456585
CTintergenicDe novo--Yuen2017 G
LOC646813   1-0756-003chr11:
51243951-51243951
TTAintergenicDe novo--Yuen2017 G
LOC646813   2-0145-003chr11:
51243900-51243900
GCintergenicDe novo--Yuen2017 G
LOC646813   2-1632-003chr11:
50663634-50663634
GCintergenicDe novo--Yuen2017 G
LOC646813   5-0004-003chr11:
51294314-51294314
TCintergenicDe novo--Yuen2017 G
LOC646813   7-0077-003chr11:
51285236-51285236
GAintergenicDe novo--Yuen2017 G
LOC646813   AU4032306chr11:
51282748-51282748
CTintergenicDe novo--Yuen2017 G
LOC646813   2-1416-004chr11:
51295355-51295355
GTintergenicDe novo--Yuen2017 G
LOC646813   AU075210chr11:
50728970-50728970
CTintergenicDe novo--Yuen2017 G
LOC646813   2-1416-004chr11:
51244637-51244637
AGintergenicDe novo--Yuen2017 G
LOC646813   2-1456-003chr11:
51243951-51243951
TTAintergenicDe novo--Yuen2017 G
LOC646813   AU031203chr11:
51219620-51219620
TAintergenicDe novo--Yuen2017 G
LOC646813   AU3787303chr11:
50687174-50687174
CTintergenicDe novo--Yuen2017 G
LOC646813   1-0756-005chr11:
51243956-51243956
AAGGintergenicDe novo--Yuen2017 G
LOC646813   1-0559-005chr11:
51367027-51367027
CCGintergenicDe novo--Yuen2017 G
LOC646813   2-0214-003chr11:
51291652-51291652
AAGintergenicDe novo--Yuen2017 G
LOC646813   2-1210-003chr11:
51291652-51291652
AAGintergenicDe 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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