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Results for "EXT1"

Variant Events: 31

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
EXT1     2-1702-003chr8:
119136517-119136517
AGintergenicDe novo--Yuen2017 G
EXT1     AU4444304chr8:
118943577-118943577
TCintronicDe novo--Yuen2017 G
EXT1     60-2027chr8:
118938368-118938368
TCintronicDe novo--Michaelson2012 G
EXT1     1-0092-004chr8:
119193008-119193008
CTintergenicDe novo--Yuen2017 G
EXT1     14555.p1chr8:
118830706-118830706
CTexonicMosaicnonsynonymous SNVNM_000127c.G1600Ap.V534M22.28.236E-6Dou2017 E
Krupp2017 E
EXT1     AU1988302chr8:
118935653-118935653
TAintronicDe novo--Yuen2017 G
EXT1     3-0458-000Bchr8:
118940282-118940282
CTintronicDe novo--Yuen2017 G
EXT1     AU066206chr8:
119079651-119079651
TAintronicDe novo--Yuen2017 G
EXT1     AU056003chr8:
119041448-119041448
GAintronicDe novo--Yuen2017 G
EXT1     AU1698302chr8:
119191279-119191279
TCintergenicDe novo--Yuen2017 G
EXT1     AU2793303chr8:
118921269-118921269
GAintronicDe novo--Yuen2017 G
EXT1     12568.p1chr8:
118934099-118934099
GAintronicDe novo--Turner2016 G
EXT1     12793.p1chr8:
119071796-119071796
CTintronicDe novo--Turner2016 G
EXT1     AU4033304chr8:
119090124-119090124
CTintronicDe novo--Yuen2017 G
EXT1     10C117563chr8:
119122786-119122786
GAexonicDe novononsynonymous SNVNM_000127c.C500Tp.S167L22.2-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
EXT1     7-0151-003chr8:
118911767-118911767
GAintronicDe novo--Yuen2017 G
EXT1     AU056803chr8:
118908799-118908799
CTintronicDe novo--Yuen2017 G
EXT1     3-0458-000chr8:
118940282-118940282
CTintronicDe novo--Yuen2016 G
EXT1     2-1366-004chr8:
118932403-118932403
AGintronicDe novo--Yuen2017 G
EXT1     14364.p1chr8:
118831948-118831948
GAexonicDe novosynonymous SNVNM_000127c.C1503Tp.L501L-4.945E-5Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
EXT1     AU050910chr8:
119156364-119156364
GAintergenicDe novo--Yuen2017 G
EXT1     AU000704chr8:
119172735-119172735
TAintergenicDe novo--Yuen2017 G
EXT1     2-1397-003chr8:
118826334-118826339
GAGAAGGAGintronicDe novo--Yuen2017 G
EXT1     AU3862305chr8:
118998285-118998285
GAintronicDe novo--Yuen2017 G
EXT1     2-1497-003chr8:
119097359-119097359
AGintronicDe novo--Yuen2017 G
EXT1     3-0458-000Achr8:
118940282-118940282
CTintronicDe novo--Yuen2017 G
EXT1     1-0508-003chr8:
119090934-119090934
CAintronicDe novo--Yuen2017 G
EXT1     2-1146-003chr8:
118819567-118819567
CAexonicDe novononsynonymous SNVNM_000127c.G1772Tp.G591V33.0-Yuen2017 G
EXT1     AU2162302chr8:
118917408-118917408
GAintronicDe novo--Yuen2017 G
EXT1     2-1281-003chr8:
119189253-119189253
CTintergenicDe novo--Yuen2017 G
EXT1     AU4056302chr8:
118982603-118982603
CTintronicDe 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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