Variant Results

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Results for "EML5"

Variant Events: 26

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

EML5

NDAR_INVFF921HTH_wes1

chr14:
89089060-89089060

G

T

exonic

stopgain

NM_183387

c.C4901A

p.S1634X

28.4

-

Doan2019 E

EML5

3-0788-000

chr14:
89216951-89216951

C

T

intronic

De novo

-

-

Trost2022 G

EML5

3-0368-000

chr14:
89247839-89247839

A

G

intronic

De novo

-

-

Trost2022 G

EML5

AU1725302

Complex Event; expand row to view variants

De novo

-

-

Trost2022 G
Yuen2017 G

EML5

SP0072204

chr14:
89168818-89168818

G

C

exonic

De novo

nonsynonymous SNV

NM_183387

c.C2210G

p.P737R

25.1

-

Fu2022 E
Trost2022 G
Zhou2022 GE

EML5

SP0061121

chr14:
89129380-89129380

C

T

exonic

De novo

nonsynonymous SNV

NM_183387

c.G3493A

p.V1165M

8.286

-

Fu2022 E
Zhou2022 GE

EML5

AU1725306

chr14:
89178903-89178903

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

EML5

2-1353-003

chr14:
89162855-89162855

C

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

EML5

MSSNG00385-003

chr14:
89192913-89192913

C

A

exonic

De novo

nonsynonymous SNV

NM_183387

c.G1159T

p.D387Y

26.2

-

Trost2022 G
Zhou2022 GE

EML5

NDAR_INVYG798UD0_wes1

chr14:
89154652-89154652

T

C

exonic

De novo

nonsynonymous SNV

NM_183387

c.A2705G

p.H902R

22.3

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

EML5

A202403

chr14:
89161797-89161797

C

T

exonic

De novo

synonymous SNV

NM_183387

c.G2346A

p.A782A

-

Fu2022 E

EML5

AU4336301

chr14:
89218430-89218430

A

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

EML5

MT_35.3

chr14:
89177908-89177908

A

C

intronic

De novo

-

-

Trost2022 G

EML5

MT_168.3

chr14:
89196985-89196985

A

T

intronic

De novo

-

-

Trost2022 G

EML5

iHART1403

chr14:
89110776-89110776

C

A

splicing

Paternal

splicing

19.46

-

Ruzzo2019 G

EML5

3-0338-000

chr14:
89155858-89155858

T

C

intronic

De novo

-

-

Trost2022 G

EML5

AU3787303

chr14:
89145171-89145171

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

EML5

iHART1401

chr14:
89110776-89110776

C

A

splicing

Paternal

splicing

19.46

-

Ruzzo2019 G

EML5

MSSNG00220-003

chr14:
89166173-89166173

A

C

intronic

De novo

-

-

Trost2022 G

EML5

1-0291-003

chr14:
89115389-89115389

C

A

intronic

De novo

-

-

Trost2022 G

EML5

3-0018-000

chr14:
89157816-89157816

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

EML5

MSSNG00349-004

chr14:
89153756-89153756

G

GA

intronic

De novo

-

-

Trost2022 G

EML5

mAGRE1403

chr14:
89110776-89110776

C

A

splicing

Paternal

splicing

19.46

-

Cirnigliaro2023 G

EML5

mAGRE1401

chr14:
89110776-89110776

C

A

splicing

Paternal

splicing

19.46

-

Cirnigliaro2023 G

EML5

MSSNG00153-003

chr14:
89100175-89100175

G

C

intronic

De novo

-

-

Trost2022 G

EML5

mAGRE5920

chr14:
89109336-89109336

G

A

exonic

Maternal

stopgain

NM_183387

c.C4138T

p.R1380X

46.0

-

Cirnigliaro2023 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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