Variant Results

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Results for "EIF2AK4"

Variant Events: 13

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

EIF2AK4

mAGRE4970

chr15:
40299265-40299265

C

T

exonic

Maternal

stopgain

NM_001013703

c.C3406T

p.R1136X

39.0

-

Cirnigliaro2023 G

EIF2AK4

SP0130684

chr15:
40295367-40295367

T

G

intronic

De novo

-

-

Fu2022 E

EIF2AK4

mAGRE1583

chr15:
40284388-40284388

C

T

exonic

Paternal

stopgain

NM_001013703

c.C2644T

p.Q882X

41.0

-

Cirnigliaro2023 G

EIF2AK4

74-0765

chr15:
40269017-40269017

C

G

exonic

Inherited

nonsynonymous SNV

NM_001013703

c.C2221G

p.H741D

1.528

-

Patowary2019 E

EIF2AK4

SP0066073

chr15:
40285060-40285060

T

G

intronic

De novo

-

-

Fu2022 E

EIF2AK4

AU2715301

chr15:
40247944-40247944

C

T

exonic

nonsynonymous SNV

NM_001013703

c.C718T

p.R240W

17.03

Zhou2022 GE

EIF2AK4

SP0016652

chr15:
40268927-40268927

T

C

exonic

De novo

nonsynonymous SNV

NM_001013703

c.T2131C

p.W711R

29.8

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

EIF2AK4

08C76119

chr15:
40247944-40247944

C

T

exonic

De novo

nonsynonymous SNV

NM_001013703

c.C718T

p.R240W

17.03

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

EIF2AK4

mAGRE2554

chr15:
40324995-40324995

C

A

exonic

Paternal

stopgain

NM_001013703

c.C4766A

p.S1589X

42.0

-

Cirnigliaro2023 G

EIF2AK4

iHART2554

chr15:
40324995-40324995

C

A

exonic

Paternal

stopgain

NM_001013703

c.C4766A

p.S1589X

42.0

-

Ruzzo2019 G

EIF2AK4

iHART1583

chr15:
40284388-40284388

C

T

exonic

Paternal

stopgain

NM_001013703

c.C2644T

p.Q882X

41.0

-

Ruzzo2019 G

EIF2AK4

AU3728301

chr15:
40235024-40235024

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

EIF2AK4

1-0751-003

chr15:
40325021-40325021

T

A

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
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