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Results for "FRY"

Variant Events: 18

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
FRY     1-0489-003chr13:
32718363-32718363
ACintronicDe novo--Yuen2016 G
FRY     AU3124302chr13:
32773529-32773529
TAintronicDe novo--Yuen2017 G
FRY     2-1373-003chr13:
32699273-32699273
CTintronicDe novo--Yuen2016 G
FRY     iHART2862chr13:
32868559-32868560
AGAexonicMaternalframeshift deletionNM_023037c.8636delGp.S2879fs--Ruzzo2019 G
FRY     11060.p1chr13:
32768371-32768371
AACexonicDe novoframeshift insertionNM_023037c.3684dupCp.Y1228fs--Wilfert2021 G
FRY     111317chr13:
32799158-32799158
CTexonicnonsynonymous SNVNM_023037c.C5005Tp.H1669Y25.8-Woodbury-Smith2022 E
FRY     AU3727302chr13:
32658149-32658149
GCintronicDe novo--Yuen2017 G
FRY     AU041Achr13:
32698445-32698445
TAexonicDe novononsynonymous SNVNM_023037c.T487Ap.L163I16.8-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
FRY     12647.p1chr13:
32832110-32832110
GAintronicDe novo--Wilfert2021 G
FRY     AU02103chr13:
32761742-32761742
TCexonicDe novosynonymous SNVNM_023037c.T3540Cp.D1180D--DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
FRY     11561.p1chr13:
32852714-32852714
TCintronicDe novo--Satterstrom2020 E
FRY     2-1567-004chr13:
32792847-32792849
CATCintronicDe novo--Yuen2017 G
FRY     Cukier2014:17678chr13:
32785102-32785102
GAexonicUnknownnonsynonymous SNVNM_023037c.G4522Ap.V1508I18.815.0E-4Cukier2014 E
FRY     AU070007chr13:
32821755-32821755
TCintronicDe novo--Yuen2017 G
FRY     1-0347-003chr13:
32726765-32726765
CTintronicDe novo--Yuen2017 G
FRY     IGM8204chr13:
32759075-32759075
GAintronicDe novo--Satterstrom2020 E
FRY     1-0153-005chr13:
32701655-32701655
CCTGintronicDe novo--Yuen2017 G
FRY     AU4069301chr13:
32753806-32753806
TCintronicDe 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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