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Results for "FGFR2"

Variant Events: 12

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
FGFR2     AU012804chr10:
123338115-123338115
TCintronicDe novo--Yuen2017 G
FGFR2     1-0572-003chr10:
123293270-123293270
CTintronicDe novo--Yuen2017 G
FGFR2     3-0211-000chr10:
123258119-123258119
TCexonicPaternalnonsynonymous SNVNM_001144914
NM_001144916
NM_001144917
NM_001144918
NM_023029
NM_001144913
NM_001144915
NM_001144919
NM_000141
NM_022970
c.A1226G
c.A1217G
c.A1214G
c.A1211G
c.A1295G
c.A1565G
c.A1295G
c.A1298G
c.A1562G
c.A1565G
p.D409G
p.D406G
p.D405G
p.D404G
p.D432G
p.D522G
p.D432G
p.D433G
p.D521G
p.D522G
13.682.472E-5Tammimies2015 E
FGFR2     2-1501-003chr10:
123366660-123366660
GAintergenicDe novo--Yuen2017 G
FGFR2     NDAR_INVHB587BPE_wes1chr10:
123298088-123298088
GAintronicDe novo-9.892E-5Kosmicki2017 E
Satterstrom2020 E
FGFR2     AU4032306chr10:
123254056-123254056
TCintronicDe novo--Yuen2017 G
FGFR2     AU058105chr10:
123292513-123292513
GAintronicDe novo--Yuen2017 G
FGFR2     Mahjani2021:33chr10:
123279600-123279600
AGexonicnonsynonymous SNVNM_001144916
NM_001144918
NM_023029
NM_001144913
NM_001144915
NM_001144919
NM_000141
NM_001144917
NM_022970
c.T487C
c.T487C
c.T565C
c.T832C
c.T565C
c.T565C
c.T832C
c.T832C
c.T832C
p.C163R
p.C163R
p.C189R
p.C278R
p.C189R
p.C189R
p.C278R
p.C278R
p.C278R
26.0-Mahjani2021 E
FGFR2     1-0486-003chr10:
123352457-123352457
GAintronicDe novo--Yuen2017 G
FGFR2     7-0100-004chr10:
123489350-123489350
TCintergenicDe novo--Yuen2017 G
FGFR2     1-0373-003chr10:
123431269-123431269
AATGGAGGTCATintergenicDe novo--Yuen2017 G
FGFR2     3-0446-000chr10:
123338468-123338468
GCintronicDe 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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