Variant Results

or

Results for "EEF1A2"

Variant Events: 23

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

EEF1A2

2-0135-003

chr20:
62138602-62138602

T

A

intergenic

De novo

-

Yuen2017 G

EEF1A2

Nakajima2014:2

chr20:
62126415-62126415

C

T

exonic

De novo

nonsynonymous SNV

NM_001958

c.G364A

p.E122K

34.0

-

Nakajima2014 E

EEF1A2

14503.p1

chr20:
62120390-62120390

C

T

exonic

De novo

nonsynonymous SNV

NM_001958

c.G1145A

p.R382H

17.85

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
O’Roak2014 T
Satterstrom2020 E
Trost2022 G
Wang2020 T
Wilfert2021 G
Zhou2022 GE

EEF1A2

AGRE_03C16619

chr20:
62121948-62121948

C

T

exonic

Unknown

nonsynonymous SNV

NM_001958

c.G913A

p.G305S

23.3

8.36E-6

Wang2020 T

EEF1A2

SF0046031.p1

chr20:
62119729-62119729

G

C

exonic

nonsynonymous SNV

NM_001958

c.C1314G

p.I438M

15.07

-

Wang2020 T

EEF1A2

14503_p1

chr20:
62120390-62120390

C

T

exonic

De novo

nonsynonymous SNV

NM_001958

c.G1145A

p.R382H

17.85

-

Fu2022 E

EEF1A2

SSC12537

chr20:
62120390-62120390

C

T

exonic

nonsynonymous SNV

NM_001958

c.G1145A

p.R382H

17.85

-

Antaki2022 GE

EEF1A2

13529.p1

chr20:
62126140-62126140

G

A

intronic

De novo

-

4.335E-5

Krumm2015 E

EEF1A2

10-1149-003

chr20:
62127518-62127518

G

A

intronic

De novo

-

Trost2022 G

EEF1A2

1-0184-003

chr20:
62123119-62123145

GTGGATGGATGGATGGATGGATGGATG

GTGGATGGATGGATGGATGGATG

intronic

De novo

-

Yuen2017 G

EEF1A2

ASP067

chr20:
62120532-62120532

C

A

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

EEF1A2

SP0117416

chr20:
62124410-62124410

T

G

intronic

De novo

-

Fu2022 E

EEF1A2

SP0056260

chr20:
62126416-62126416

G

A

exonic

De novo

synonymous SNV

NM_001958

c.C363T

p.G121G

-

2.564E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

EEF1A2

2-1339-003

chr20:
62126415-62126415

C

T

exonic

Unknown, De novo

nonsynonymous SNV

NM_001958

c.G364A

p.E122K

34.0

-

Trost2022 G
Wang2020 T
Yuen2017 G
Zhou2022 GE

EEF1A2

91

chr20:
62127325-62127325

C

T

exonic

De novo

nonsynonymous SNV

NM_001958

c.G208A

p.G70S

34.0

-

O’Roak2014 T

EEF1A2

1-0059-003

chr20:
62134980-62134980

C

T

intergenic

De novo

-

Yuen2017 G

EEF1A2

MSSNG00029-003

chr20:
62126344-62126344

C

T

exonic

De novo

synonymous SNV

NM_001958

c.G435A

p.V145V

-

Trost2022 G
Zhou2022 GE

EEF1A2

AU2410302

chr20:
62127170-62127170

C

T

intronic

De novo

-

2.59E-5

Trost2022 G
Yuen2017 G

EEF1A2

SP0150791

chr20:
62126283-62126283

G

T

exonic

De novo

nonsynonymous SNV

NM_001958

c.C496A

p.R166S

25.9

-

Trost2022 G

EEF1A2

MSSNG00031-004

chr20:
62121407-62121407

G

A

intronic

De novo

-

Trost2022 G

EEF1A2

SP0046031

chr20:
62119729-62119729

G

C

exonic

nonsynonymous SNV

NM_001958

c.C1314G

p.I438M

15.07

-

Antaki2022 GE
Zhou2022 GE

EEF1A2

Nakajima2014:1

chr20:
62124508-62124508

C

G

exonic

De novo

nonsynonymous SNV

NM_001958

c.G754C

p.D252H

15.68

-

Nakajima2014 E

EEF1A2

7-0100-004

chr20:
62129742-62129742

A

G

intronic

De novo

-

Trost2022 G
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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