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Results for "ICE1"

Variant Events: 54

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
ICE1     AU3857301chr5:
5809141-5809141
GTintergenicDe novo--Yuen2017 G
ICE1     63-449chr5:
5796383-5796383
TAintergenicDe novo--Michaelson2012 G
ICE1     74-0265chr5:
6150563-6150563
TCintergenicDe novo--Michaelson2012 G
ICE1     2-1591-003chr5:
5768315-5768315
CTintergenicDe novo--Yuen2017 G
ICE1     13023.p1chr5:
5913097-5913097
CTintergenicDe novo--Turner2016 G
ICE1     11572.p1chr5:
6274860-6274860
TCintergenicDe novo--Turner2016 G
ICE1     3-0428-000chr5:
6085594-6085594
GTintergenicDe novo--Yuen2016 G
Yuen2017 G
ICE1     2-1364-003chr5:
5608616-5608616
CTintergenicDe novo--Yuen2017 G
ICE1     Shi2013:1chr5:
5457476-5457476
ATexonicInheritednonsynonymous SNVNM_015325c.A723Tp.R241S13.886.146E-5Shi2013 G
ICE1     2-0129-004chr5:
5894190-5894190
CAintergenicDe novo--Yuen2017 G
ICE1     2-0007-003chr5:
6156593-6156593
TAintergenicDe novo--Yuen2017 G
ICE1     AU2711303chr5:
5440673-5440673
ATintronicDe novo--Yuen2017 G
ICE1     AU4150301chr5:
5826691-5826691
TCintergenicDe novo--Yuen2017 G
ICE1     1-0092-003chr5:
6012316-6012316
GAintergenicDe novo--Yuen2017 G
ICE1     5-0084-003chr5:
5800098-5800098
GAintergenicDe novo--Yuen2017 G
ICE1     1-0559-003chr5:
5971893-5971893
CTintergenicDe novo--Yuen2017 G
ICE1     2-1502-003chr5:
5518444-5518444
GCintergenicDe novo--Yuen2017 G
ICE1     AU3302302chr5:
5879917-5879917
CAintergenicDe novo--Yuen2017 G
ICE1     1-0566-003chr5:
5807261-5807273
CCTCTCTCTCTCTCCTCTCTCTCTintergenicDe novo--Yuen2017 G
ICE1     AU060803chr5:
6084009-6084016
ACACTCACACACintergenicDe novo--Yuen2017 G
ICE1     AU1988301chr5:
5994580-5994580
GAintergenicDe novo--Yuen2017 G
ICE1     AU076808chr5:
6024327-6024327
CTintergenicDe novo--Yuen2017 G
ICE1     2-1731-003chr5:
5992812-5992812
GAintergenicDe novo--Yuen2017 G
ICE1     AU4012302chr5:
6003284-6003284
CTintergenicDe novo--Yuen2017 G
ICE1     AU3984302chr5:
5533500-5533500
AGintergenicDe novo--Yuen2017 G
ICE1     AU3866301chr5:
6105393-6105393
ATintergenicDe novo--Yuen2017 G
ICE1     1-0203-004chr5:
5743611-5743611
AGintergenicDe novo--Yuen2017 G
ICE1     AU3866301chr5:
6105578-6105578
GCintergenicDe novo--Yuen2017 G
ICE1     1-0080-003chr5:
5968436-5968436
TCintergenicDe novo--Yuen2017 G
ICE1     AU3918301chr5:
5845771-5845771
ATintergenicDe novo--Yuen2017 G
ICE1     Shi2013:2chr5:
5457476-5457476
ATexonicInheritednonsynonymous SNVNM_015325c.A723Tp.R241S13.886.146E-5Shi2013 G
ICE1     3-0456-000Bchr5:
5938320-5938320
GAintergenicDe novo--Yuen2017 G
ICE1     2-0298-003chr5:
5846224-5846224
GTintergenicDe novo--Yuen2017 G
ICE1     2-1562-004chr5:
6088435-6088435
TCintergenicDe novo--Yuen2017 G
ICE1     5-0083-003chr5:
6131424-6131424
CAintergenicDe novo--Yuen2017 G
ICE1     1-0191-004chr5:
5439983-5439983
CTintronicDe novo--Yuen2017 G
ICE1     AU3839303chr5:
6271169-6271169
TCintergenicDe novo--Yuen2017 G
ICE1     3-0456-000chr5:
5938320-5938320
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
ICE1     AU3852301chr5:
5447860-5447865
GAAAAAGAAAAAAexonicDe novoframeshift insertionNM_015325c.539dupAp.N180fs--Yuen2017 G
ICE1     2-1362-003chr5:
5916381-5916381
CTintergenicDe novo--Yuen2017 G
ICE1     1-0473-003chr5:
5701996-5701996
GCintergenicDe novo--Yuen2017 G
ICE1     13424.p1chr5:
5465273-5465273
CTexonicDe novosynonymous SNVNM_015325c.C5826Tp.I1942I--Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
ICE1     1-0568-003chr5:
5621982-5621982
CTintergenicDe novo--Yuen2017 G
ICE1     1-0191-003chr5:
5779314-5779314
CAintergenicDe novo--Yuen2017 G
ICE1     1-0338-003chr5:
6038256-6038256
CGintergenicDe novo--Yuen2017 G
ICE1     AU038203chr5:
5983541-5983541
GTintergenicDe novo--Yuen2017 G
ICE1     AU1635302chr5:
6135198-6135198
GTintergenicDe novo--Yuen2017 G
ICE1     NDAR_INVEB022VLQ_wes1chr5:
5457449-5457449
ACexonicDe novononsynonymous SNVNM_015325c.A696Cp.K232N12.88-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
ICE1     7-0106-003chr5:
6250645-6250645
ATintergenicDe novo--Yuen2017 G
ICE1     1-0755-003chr5:
5742514-5742514
GAintergenicDe novo--Yuen2017 G
ICE1     3-0185-000chr5:
6249356-6249356
CTintergenicDe novo--Yuen2017 G
ICE1     5-0128-003chr5:
5467737-5467737
GTintronicDe novo--Yuen2017 G
ICE1     1-0751-003chr5:
5707455-5707455
CGintergenicDe novo--Yuen2017 G
ICE1     1-0153-004chr5:
6001062-6001062
CTintergenicDe 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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