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Results for "FRYL"

Variant Events: 23

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
FRYL     80001100728chr4:
48530254-48530254
ATexonicDe novononsynonymous SNVNM_015030c.T7003Ap.S2335T15.42-Satterstrom2020 E
FRYL     12532.p1chr4:
48514594-48514594
TGexonicMosaic, De novononsynonymous SNVNM_015030c.A8049Cp.E2683D12.74-Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
FRYL     1-0554-003chr4:
48523075-48523075
CTexonicDe novononsynonymous SNVNM_015030c.G7679Ap.R2560Q7.4595.001E-5Yuen2017 G
FRYL     2-1391-003chr4:
48733330-48733330
CTintronicDe novo--Yuen2017 G
FRYL     579-05-104393chr4:
48569420-48569420
TAexonicDe novononsynonymous SNVNM_015030c.A3014Tp.D1005V17.17-Satterstrom2020 E
FRYL     AU038703chr4:
48756592-48756592
TCintronicDe novo--Yuen2017 G
FRYL     AU3052302chr4:
48591731-48591731
TCintronicDe novo--Yuen2017 G
FRYL     AU1521301chr4:
48811543-48811543
AGintergenicDe novo--Yuen2017 G
FRYL     2-0013-003chr4:
48759264-48759264
GGGGCAintronicDe novo--Yuen2017 G
FRYL     3-0018-000chr4:
48770764-48770764
CTintronicDe novo--Yuen2017 G
FRYL     AU1909304chr4:
48788321-48788321
GAintergenicDe novo--Yuen2017 G
FRYL     09C99958Achr4:
48517342-48517342
TAintronicDe novo--Kosmicki2017 E
FRYL     1-0261-003chr4:
48529355-48529355
TCintronicDe novo--Yuen2017 G
FRYL     AU4234302chr4:
48554386-48554386
TCintronicDe novo--Yuen2017 G
FRYL     12237.p1chr4:
48583513-48583513
CGexonicDe novononsynonymous SNVNM_015030c.G2096Cp.R699P24.42.525E-5Ji2016 E
Krumm2015 E
FRYL     AU3801301chr4:
48499687-48499687
CTUTR3De novo--Yuen2017 G
FRYL     AU4473301chr4:
48597714-48597714
GTexonicDe novononsynonymous SNVNM_015030c.C1141Ap.R381S35.0-Yuen2017 G
FRYL     11C120635chr4:
48563484-48563484
CTsplicingDe novosplicing15.04-DeRubeis2014 E
Kosmicki2017 E
FRYL     AU4429301chr4:
48797473-48797473
CAintergenicDe novo--Yuen2017 G
FRYL     2-1436-003chr4:
48815166-48815166
CTintergenicDe novo--Yuen2017 G
FRYL     AU2072302chr4:
48654796-48654796
AGintronicDe novo--Yuen2017 G
FRYL     1-0841-003chr4:
48755107-48755107
CAintronicDe novo--Yuen2017 G
FRYL     2-0309-004chr4:
48655106-48655106
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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