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Results for "CRBN"

Variant Events: 57

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
CRBN     1-0495-003chr3:
3215571-3215571
AGintronicDe novo--Yuen2017 G
CRBN     AU4079301chr3:
3312356-3312356
CTintergenicDe novo--Yuen2017 G
CRBN     AU3695303chr3:
3242852-3242852
GCintergenicDe novo--Yuen2017 G
CRBN     1-0218-003chr3:
3435730-3435730
TTCAintergenicDe novo--Yuen2017 G
CRBN     2-0145-004chr3:
3435730-3435730
TTCAintergenicDe novo--Yuen2017 G
CRBN     1-0119-004chr3:
3542498-3542498
TCintergenicDe novo--Yuen2017 G
CRBN     1-0282-003chr3:
3435730-3435730
TTCAintergenicDe novo--Yuen2017 G
CRBN     2-1434-003chr3:
3650653-3650653
ACintergenicDe novo--Yuen2017 G
CRBN     2-1456-004chr3:
3435730-3435730
TTCAintergenicDe novo--Yuen2017 G
CRBN     2-0306-004chr3:
3694531-3694531
TCintergenicDe novo--Yuen2017 G
CRBN     7-0002-003chr3:
3435730-3435730
TTCAintergenicDe novo--Yuen2017 G
CRBN     5-0025-003chr3:
3435730-3435730
TTCAintergenicDe novo--Yuen2017 G
CRBN     2-1391-003chr3:
3435730-3435730
TTCAintergenicDe novo--Yuen2017 G
CRBN     AU060803chr3:
3668820-3668820
GAintergenicDe novo--Yuen2017 G
CRBN     AU1848302chr3:
3812183-3812183
ACintergenicDe novo--Yuen2017 G
CRBN     2-0127-004chr3:
3435730-3435730
TTCAintergenicDe novo--Yuen2017 G
CRBN     2-1177-003chr3:
3217580-3217580
TCintronicDe novo--Yuen2016 G
Yuen2017 G
CRBN     1-0323-003chr3:
3435730-3435730
TTCAintergenicDe novo--Yuen2017 G
CRBN     2-1278-003chr3:
3360779-3360779
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
CRBN     2-0306-003chr3:
3694531-3694531
TCintergenicDe novo--Yuen2016 G
CRBN     AU2433302chr3:
3270751-3270751
AGintergenicDe novo--Yuen2017 G
CRBN     AU3881302chr3:
3457031-3457031
ATintergenicDe novo--Yuen2017 G
CRBN     1-0595-005chr3:
3435730-3435730
TTCAintergenicDe novo--Yuen2017 G
CRBN     AU3777301chr3:
3670989-3670989
CTintergenicDe novo--Yuen2017 G
CRBN     2-1132-003chr3:
3435730-3435730
TTCAintergenicDe novo--Yuen2017 G
CRBN     2-1170-003chr3:
3435730-3435730
TTCAintergenicDe novo--Yuen2017 G
CRBN     1-0121-003chr3:
3803152-3803152
CTintergenicDe novo--Yuen2017 G
CRBN     1-0483-003chr3:
3633121-3633121
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
CRBN     1-0820-003chr3:
3305165-3305165
TAintergenicDe novo--Yuen2017 G
CRBN     5-0015-004chr3:
3435730-3435730
TTCAintergenicDe novo--Yuen2017 G
CRBN     1-0530-003chr3:
3326565-3326565
CGintergenicDe novo--Yuen2017 G
CRBN     AU2248301chr3:
3453270-3453270
AGintergenicDe novo--Yuen2017 G
CRBN     2-1702-004chr3:
3622714-3622714
CAintergenicDe novo--Yuen2017 G
CRBN     1-0171-005chr3:
3760619-3760619
TAintergenicDe novo--Yuen2017 G
CRBN     1-0161-004chr3:
3740817-3740817
CTintergenicDe novo--Yuen2017 G
CRBN     AU4164301chr3:
3374434-3374434
ACintergenicDe novo--Yuen2017 G
CRBN     2-1456-003chr3:
3435730-3435730
TTCAintergenicDe novo--Yuen2017 G
CRBN     5-0071-003chr3:
3435730-3435730
TTCAintergenicDe novo--Yuen2017 G
CRBN     1-0344-003chr3:
3435730-3435730
TTCAintergenicDe novo--Yuen2017 G
CRBN     1-0259-005chr3:
3803066-3803066
AGintergenicDe novo--Yuen2017 G
CRBN     AU4234303chr3:
3539989-3539989
GTintergenicDe novo--Yuen2017 G
CRBN     AU1795301chr3:
3513698-3513698
TCintergenicDe novo--Yuen2017 G
CRBN     AU3125301chr3:
3386327-3386327
CGintergenicDe novo--Yuen2017 G
CRBN     1-0595-004chr3:
3435730-3435730
TTCAintergenicDe novo--Yuen2017 G
CRBN     1-0669-003chr3:
3810690-3810690
CTintergenicDe novo--Yuen2017 G
CRBN     1-0553-003chr3:
3435730-3435730
TTCAintergenicDe novo--Yuen2017 G
CRBN     5-0015-003chr3:
3435730-3435730
TTCAintergenicDe novo--Yuen2017 G
CRBN     AU3725302chr3:
3613609-3613609
TAintergenicDe novo--Yuen2017 G
CRBN     7-0024-005chr3:
3322377-3322377
TAintergenicDe novo--Yuen2017 G
CRBN     1-0218-004chr3:
3435730-3435730
TTCAintergenicDe novo--Yuen2017 G
CRBN     11372.p1chr3:
3238307-3238307
CAintergenicMosaic--Dou2017 E
CRBN     1-0272-003chr3:
3250221-3250221
TCintergenicDe novo--Yuen2017 G
CRBN     2-1391-004chr3:
3435730-3435730
TTCAintergenicDe novo--Yuen2017 G
CRBN     1-0487-003chr3:
3485360-3485360
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
CRBN     1-0454-003chr3:
3820510-3820510
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
CRBN     2-1213-003chr3:
3640594-3640594
TCintergenicDe novo--Yuen2017 G
CRBN     AU0540301chr3:
3605734-3605734
CTintergenicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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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