Variant Results

or

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

AU012804

chr10:
123338115-123338115

T

C

intronic

De novo

-

Yuen2017 G

FGFR2

1-0572-003

chr10:
123293270-123293270

C

T

intronic

De novo

-

Yuen2017 G

FGFR2

3-0211-000

chr10:
123258119-123258119

T

C

exonic

Paternal

nonsynonymous SNV

NM_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

13.68

2.472E-5

Tammimies2015 E

FGFR2

2-1501-003

chr10:
123366660-123366660

G

A

intergenic

De novo

-

Yuen2017 G

FGFR2

NDAR_INVHB587BPE_wes1

chr10:
123298088-123298088

G

A

intronic

De novo

-

9.892E-5

Kosmicki2017 E
Satterstrom2020 E

FGFR2

AU4032306

chr10:
123254056-123254056

T

C

intronic

De novo

-

Yuen2017 G

FGFR2

AU058105

chr10:
123292513-123292513

G

A

intronic

De novo

-

Yuen2017 G

FGFR2

Mahjani2021:33

chr10:
123279600-123279600

A

G

exonic

nonsynonymous SNV

NM_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

1-0486-003

chr10:
123352457-123352457

G

A

intronic

De novo

-

Yuen2017 G

FGFR2

7-0100-004

chr10:
123489350-123489350

T

C

intergenic

De novo

-

Yuen2017 G

FGFR2

1-0373-003

chr10:
123431269-123431269

A

ATGGAGGTCAT

intergenic

De novo

-

Yuen2017 G

FGFR2

3-0446-000

chr10:
123338468-123338468

G

C

intronic

De novo

-

Yuen2017 G

Source Variant Information

, -

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 notes	View
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