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Results for "OR4C46"

Variant Events: 87

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
OR4C46     AU3122301chr11:
51590500-51590500
CGintergenicDe novo--Yuen2017 G
OR4C46     1-0225-003chr11:
51591677-51591677
GCintergenicDe novo--Yuen2017 G
OR4C46     2-1105-003chr11:
51592721-51592721
ATintergenicDe novo--Yuen2017 G
OR4C46     1-0496-003chr11:
51582017-51582017
CAintergenicDe novo--Yuen2017 G
OR4C46     AU3122301chr11:
51581985-51581985
GAintergenicDe novo--Yuen2017 G
OR4C46     AU3122301chr11:
51590497-51590497
CTintergenicDe novo--Yuen2017 G
OR4C46     1-0806-003chr11:
51590613-51590614
AGAintergenicDe novo--Yuen2017 G
OR4C46     1-0225-003chr11:
51592010-51592010
ACintergenicDe novo--Yuen2017 G
OR4C46     1-0604-003chr11:
51572313-51572313
TCintergenicDe novo--Yuen2017 G
OR4C46     AU4242302chr11:
51573305-51573305
GAintergenicDe novo--Yuen2017 G
OR4C46     AU3764302chr11:
51581975-51581975
TCintergenicDe novo--Yuen2017 G
OR4C46     AU3764302chr11:
51582836-51582836
TCintergenicDe novo--Yuen2017 G
OR4C46     2-1127-003chr11:
51521779-51521779
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
OR4C46     AU3764302chr11:
51590506-51590506
GCintergenicDe novo--Yuen2017 G
OR4C46     2-1508-003chr11:
51553965-51553965
CTintergenicDe novo--Yuen2017 G
OR4C46     AU3764302chr11:
51590558-51590558
ATintergenicDe novo--Yuen2017 G
OR4C46     AU4242302chr11:
51591890-51591890
GAintergenicDe novo--Yuen2017 G
OR4C46     1-0971-003chr11:
51581995-51581995
TAintergenicDe novo--Yuen2017 G
OR4C46     5-0045-003chr11:
51584167-51584167
ATintergenicDe novo--Yuen2017 G
OR4C46     AU3997302chr11:
51591677-51591677
GCintergenicDe novo--Yuen2017 G
OR4C46     1-0971-003chr11:
51585889-51585889
CTintergenicDe novo--Yuen2017 G
OR4C46     AU3764302chr11:
51590617-51590617
GAintergenicDe novo--Yuen2017 G
OR4C46     1-0971-003chr11:
51585787-51585787
CTintergenicDe novo--Yuen2017 G
OR4C46     2-1242-003chr11:
51583697-51583697
CAintergenicDe novo--Yuen2017 G
OR4C46     AU061003chr11:
51583013-51583013
CGintergenicDe novo--Yuen2017 G
OR4C46     AU3764302chr11:
51590649-51590649
GCintergenicDe novo--Yuen2017 G
OR4C46     1-0971-003chr11:
51583759-51583759
TCintergenicDe novo--Yuen2017 G
OR4C46     AU050403chr11:
51576608-51576609
GAGintergenicDe novo--Yuen2017 G
OR4C46     AU061003chr11:
51583621-51583621
GAintergenicDe novo--Yuen2017 G
OR4C46     JASD_Fam0182chr11:
51515545-51515545
GCexonicDe novononsynonymous SNVNM_001004703c.G264Cp.K88N0.4284.119E-5Takata2018 E
OR4C46     1-0971-003chr11:
51582069-51582069
GTintergenicDe novo--Yuen2017 G
OR4C46     AU061003chr11:
51585148-51585148
TCintergenicDe novo--Yuen2017 G
OR4C46     2-0238-003chr11:
51555987-51555987
CTintergenicDe novo--Yuen2017 G
OR4C46     1-0971-003chr11:
51592746-51592746
CTintergenicDe novo--Yuen2017 G
OR4C46     1-0971-003chr11:
51585896-51585896
TCintergenicDe novo--Yuen2017 G
OR4C46     7-0129-003chr11:
51520749-51520749
GAintergenicDe novo--Yuen2017 G
OR4C46     AU3997302chr11:
51592010-51592010
ACintergenicDe novo--Yuen2017 G
OR4C46     AU046706chr11:
51591369-51591369
CGintergenicDe novo--Yuen2017 G
OR4C46     AU3997302chr11:
51592301-51592301
CAintergenicDe novo--Yuen2017 G
OR4C46     AU046708chr11:
51582998-51582998
GTintergenicDe novo--Yuen2017 G
OR4C46     AU046708chr11:
51583716-51583716
TCintergenicDe novo--Yuen2017 G
OR4C46     AU3517302chr11:
51592010-51592010
ATintergenicDe novo--Yuen2017 G
OR4C46     2-1195-003chr11:
51591762-51591762
GAintergenicDe novo--Yuen2017 G
OR4C46     AU3997301chr11:
51592301-51592301
CAintergenicDe novo--Yuen2017 G
OR4C46     7-0223-003chr11:
51573952-51573952
AGintergenicDe novo--Yuen2017 G
OR4C46     AU3517302chr11:
51532358-51532358
GCintergenicDe novo--Yuen2017 G
OR4C46     AU3853302chr11:
51592175-51592175
GTintergenicDe novo--Yuen2017 G
OR4C46     AU4199303chr11:
51584070-51584070
AGintergenicDe novo--Yuen2017 G
OR4C46     1-0448-003chr11:
51591387-51591387
CTintergenicDe novo--Yuen2017 G
OR4C46     AU4027306chr11:
51591813-51591813
GAintergenicDe novo--Yuen2017 G
OR4C46     AU4027306chr11:
51591930-51591930
TCintergenicDe novo--Yuen2017 G
OR4C46     AU4027306chr11:
51592703-51592703
TGintergenicDe novo--Yuen2017 G
OR4C46     2-1594-003chr11:
51584213-51584213
GCintergenicDe novo--Yuen2017 G
OR4C46     AU076508chr11:
51583621-51583621
GAintergenicDe novo--Yuen2017 G
OR4C46     1-0936-003chr11:
51592099-51592099
GAintergenicDe novo--Yuen2017 G
OR4C46     AU3849302chr11:
51539394-51539394
AGintergenicDe novo--Yuen2017 G
OR4C46     2-1288-003chr11:
51592820-51592820
CTintergenicDe novo--Yuen2017 G
OR4C46     2-1288-003chr11:
51592735-51592735
CGintergenicDe novo--Yuen2017 G
OR4C46     AU3794301chr11:
51581995-51581995
TAintergenicDe novo--Yuen2017 G
OR4C46     AU4444304chr11:
51591948-51591948
TAintergenicDe novo--Yuen2017 G
OR4C46     2-1152-003chr11:
51580311-51580311
CGintergenicDe novo--Yuen2017 G
OR4C46     AU074503chr11:
51567293-51567293
CGintergenicDe novo--Yuen2017 G
OR4C46     AU1308303chr11:
51582155-51582155
TCintergenicDe novo--Yuen2017 G
OR4C46     AU3692302chr11:
51592099-51592099
GAintergenicDe novo--Yuen2017 G
OR4C46     AU3794301chr11:
51585889-51585889
CTintergenicDe novo--Yuen2017 G
OR4C46     AU1698301chr11:
51591369-51591369
CGintergenicDe novo--Yuen2017 G
OR4C46     AU1909304chr11:
51583824-51583824
CTintergenicDe novo--Yuen2017 G
OR4C46     2-1128-003chr11:
51585787-51585787
CTintergenicDe novo--Yuen2017 G
OR4C46     1-0048-003chr11:
51591449-51591449
TAintergenicDe novo--Yuen2017 G
OR4C46     2-1365-003chr11:
51553125-51553125
CGintergenicDe novo--Yuen2016 G
Yuen2017 G
OR4C46     AU046707chr11:
51583716-51583716
TCintergenicDe novo--Yuen2017 G
OR4C46     AU046703chr11:
51591369-51591369
CGintergenicDe novo--Yuen2017 G
OR4C46     5-0021-003chr11:
51583685-51583685
CAintergenicDe novo--Yuen2017 G
OR4C46     AU0638302chr11:
51583664-51583664
TAintergenicDe novo--Yuen2017 G
OR4C46     AU0638302chr11:
51592844-51592844
GTintergenicDe novo--Yuen2017 G
OR4C46     AU4212303chr11:
51580344-51580344
TAintergenicDe novo--Yuen2017 G
OR4C46     7-0219-003chr11:
51580586-51580586
GAintergenicDe novo--Yuen2017 G
OR4C46     2-1178-003chr11:
51583716-51583716
TCintergenicDe novo--Yuen2017 G
OR4C46     AU4260303chr11:
51573447-51573447
ACintergenicDe novo--Yuen2017 G
OR4C46     2-1375-003chr11:
51585811-51585811
ATintergenicDe novo--Yuen2017 G
OR4C46     2-1375-003chr11:
51582998-51582998
GTintergenicDe novo--Yuen2017 G
OR4C46     5-0021-003chr11:
51590558-51590558
ATintergenicDe novo--Yuen2017 G
OR4C46     2-1153-003chr11:
51581322-51581322
CTintergenicDe novo--Yuen2017 G
OR4C46     AU3692301chr11:
51592099-51592099
GAintergenicDe novo--Yuen2017 G
OR4C46     AU4269301chr11:
51584283-51584283
GAintergenicDe novo--Yuen2017 G
OR4C46     2-1730-003chr11:
51591381-51591381
CAintergenicDe novo--Yuen2017 G
OR4C46     NP121chr11:
51515545-51515545
GCexonicDe novononsynonymous SNVNM_001004703c.G264Cp.K88N0.4284.119E-5Lim2017 E
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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