Variant Results

or

Results for "EGFLAM"

Variant Events: 50

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

EGFLAM

MT_76

chr5:
38412638-38412642

TAAGT

T

exonic

Maternal

frameshift deletion

NM_182798
NM_001205301
NM_152403

c.681_684del
c.1383_1386del
c.1383_1386del

p.V227fs
p.V461fs
p.V461fs

-

Toma2013 E

EGFLAM

74-0355

chr5:
38453769-38453769

A

G

intronic

De novo

-

Michaelson2012 G

EGFLAM

2-0135-003

chr5:
37932366-37932366

G

A

intergenic

De novo

-

Yuen2017 G

EGFLAM

10C106241

chr5:
38438583-38438583

C

T

intronic

De novo

-

4.128E-5

Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

EGFLAM

AU3907302

chr5:
38414345-38414345

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

EGFLAM

1-0522-003

chr5:
38449552-38449552

G

A

intronic

De novo

-

Yuen2017 G

EGFLAM

1-0271-004

chr5:
38235796-38235796

C

T

intergenic

De novo

-

Yuen2017 G

EGFLAM

AU4473301

chr5:
37952196-37952196

C

T

intergenic

De novo

-

Yuen2017 G

EGFLAM

2-1567-004

chr5:
38457078-38457078

A

ATAAT

intronic

De novo

-

Trost2022 G
Yuen2017 G

EGFLAM

1-0339-003

chr5:
38118991-38118991

G

T

intergenic

De novo

-

Yuen2017 G

EGFLAM

AU2975302

chr5:
38425858-38425858

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

EGFLAM

AU4487302

chr5:
38281745-38281745

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

EGFLAM

2-1089-003

chr5:
37959937-37959937

G

T

intergenic

De novo

-

Yuen2017 G

EGFLAM

1-0323-003

chr5:
38382675-38382682

CAAGTGGA

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

EGFLAM

13543.p1

chr5:
38072245-38072245

G

A

intergenic

De novo

-

Turner2016 G

EGFLAM

2-1429-003

chr5:
38207440-38207440

A

G

intergenic

De novo

-

Yuen2017 G

EGFLAM

3C476

chr5:
38407876-38407876

A

G

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

EGFLAM

2-1562-004

chr5:
38351335-38351335

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

EGFLAM

mAGRE5947

chr5:
38438450-38438451

AC

A

exonic

Maternal

frameshift deletion

NM_182798
NM_001205301
NM_152403

c.1656delC
c.2358delC
c.2358delC

p.H552fs
p.H786fs
p.H786fs

-

8.244E-6

Cirnigliaro2023 G

EGFLAM

mAGRE5946

chr5:
38438450-38438451

AC

A

exonic

Maternal

frameshift deletion

NM_182798
NM_001205301
NM_152403

c.1656delC
c.2358delC
c.2358delC

p.H552fs
p.H786fs
p.H786fs

-

8.244E-6

Cirnigliaro2023 G

EGFLAM

AU072505

chr5:
38093463-38093463

T

C

intergenic

De novo

-

Yuen2017 G

EGFLAM

mAGRE5586

chr5:
38427355-38427355

G

T

splicing

Maternal

splicing

22.3

-

Cirnigliaro2023 G

EGFLAM

2-1169-004

chr5:
37893116-37893116

G

A

intergenic

De novo

-

Yuen2017 G

EGFLAM

A2

chr5:
38229798-38229798

A

C

intergenic

De novo

-

Wu2018 G

EGFLAM

AU3779304

chr5:
38045288-38045288

G

C

intergenic

De novo

-

Yuen2017 G

EGFLAM

2-0305-004

chr5:
38367366-38367367

AG

TCCTCCC

intronic

De novo

-

Trost2022 G

EGFLAM

MSSNG00406-003

chr5:
38389918-38389918

T

G

intronic

De novo

-

Trost2022 G

EGFLAM

2-0242-003

chr5:
38304964-38304964

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

EGFLAM

MSSNG00258-005

chr5:
38316327-38316327

G

A

intronic

De novo

-

Trost2022 G

EGFLAM

3-0059-000

chr5:
38317424-38317424

A

C

intronic

De novo

-

Trost2022 G

EGFLAM

7-0365-004

chr5:
38281042-38281042

A

G

intronic

De novo

-

Trost2022 G

EGFLAM

REACH000292

chr5:
38313475-38313475

C

G

intronic

De novo

-

Trost2022 G

EGFLAM

MSSNG00007-003A

chr5:
38261341-38261341

C

T

intronic

De novo

-

Trost2022 G

EGFLAM

1-0104-004

chr5:
38097978-38097978

T

G

intergenic

De novo

-

Yuen2017 G

EGFLAM

AU3951301

chr5:
38471357-38471357

A

G

intergenic

De novo

-

Yuen2017 G

EGFLAM

SJD_74.3

chr5:
38279851-38279851

C

A

intronic

De novo

-

Trost2022 G

EGFLAM

4-0035-003

chr5:
38457078-38457078

A

ATAAT

intronic

De novo

-

Trost2022 G

EGFLAM

AU021204

chr5:
38223563-38223563

C

T

intergenic

De novo

-

Yuen2017 G

EGFLAM

SP0060743

chr5:
38338854-38338854

G

A

exonic

De novo

nonsynonymous SNV

NM_001205301
NM_152403

c.G262A
c.G262A

p.V88M
p.V88M

15.97

2.0E-4

Trost2022 G
Zhou2022 GE

EGFLAM

AU2310301

chr5:
38420551-38420551

C

T

intronic

De novo

-

Trost2022 G

EGFLAM

7-0024-005

chr5:
38159561-38159561

A

C

intergenic

De novo

-

Yuen2017 G

EGFLAM

SP0015493

chr5:
38451607-38451607

A

C

intronic

De novo

-

8.496E-6

Trost2022 G

EGFLAM

AU3702307

chr5:
38114410-38114437

TTTTGTTTGTTTGTTTGTTTGTTTGTTT

TTTTGTTTGTTTGTTTGTTTGTTT

intergenic

De novo

-

Yuen2017 G

EGFLAM

Cukier2014:17351

chr5:
38418311-38418311

C

A

exonic

Unknown

nonsynonymous SNV

NM_182798
NM_001205301
NM_152403

c.C936A
c.C1638A
c.C1638A

p.D312E
p.D546E
p.D546E

24.1

0.003

Cukier2014 E

EGFLAM

2-1426-003

chr5:
38348451-38348451

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

EGFLAM

1-0007-003

chr5:
38029084-38029084

C

G

intergenic

De novo

-

Yuen2017 G

EGFLAM

9190755

chr5:
38425068-38425068

G

A

splicing

De novo

splicing

23.3

-

Fu2022 E

EGFLAM

1-0383-003

chr5:
38268620-38268620

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

EGFLAM

2-1511-003

chr5:
38194990-38194990

G

C

intergenic

De novo

-

Yuen2017 G

EGFLAM

A21

chr5:
38234599-38234599

G

A

intergenic

De novo

-

Wu2018 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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