Variant Results

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Results for "ATG2A"

Variant Events: 18

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

ATG2A

2-1764-003

chr11:
64662331-64662331

C

T

UTR3

De novo

-

-

Trost2022 G

ATG2A

Lim2017:70373

chr11:
64681858-64681858

C

T

exonic

De novo

nonsynonymous SNV

NM_015104

c.G286A

p.V96M

11.45

Lim2017 E

ATG2A

200675496_1082035033

chr11:
64667998-64667998

G

A

exonic

De novo

nonsynonymous SNV

NM_015104

c.C4432T

p.H1478Y

21.4

-

Fu2022 E

ATG2A

SP0071447

chr11:
64673091-64673091

C

T

exonic

De novo

synonymous SNV

NM_015104

c.G3408A

p.A1136A

5.184

Fu2022 E
Trost2022 G
Zhou2022 GE

ATG2A

SP0095731

chr11:
64679758-64679758

C

CCGGG

intronic

De novo

-

-

Fu2022 E

ATG2A

SP0062019

chr11:
64679384-64679384

A

G

exonic

De novo

synonymous SNV

NM_015104

c.T1158C

p.D386D

2.219

Fu2022 E
Trost2022 G
Zhou2022 GE

ATG2A

Chen2017:60

chr11:
64667998-64667998

G

A

exonic

De novo

nonsynonymous SNV

NM_015104

c.C4432T

p.H1478Y

21.4

-

Chen2017 E

ATG2A

SSC06545

chr11:
64664194-64664194

G

A

intronic

De novo

-

Trost2022 G

ATG2A

SP0206405

chr11:
64674243-64674244

CA

C

exonic

De novo

frameshift deletion

NM_015104

c.2876delT

p.V959fs

-

-

Trost2022 G

ATG2A

SP0029000

chr11:
64664282-64664282

C

T

exonic

nonsynonymous SNV

NM_015104

c.G5210A

p.R1737H

21.8

-

Zhou2022 GE

ATG2A

mAGRE4455

chr11:
64666194-64666194

G

A

exonic

Paternal

stopgain

NM_015104

c.C4585T

p.R1529X

42.0

-

Cirnigliaro2023 G

ATG2A

SP0053923

chr11:
64678371-64678371

G

C

exonic

nonsynonymous SNV

NM_015104

c.C1522G

p.R508G

9.496

-

Zhou2022 GE

ATG2A

200675496@1082035033

chr11:
64667998-64667998

G

A

exonic

De novo

nonsynonymous SNV

NM_015104

c.C4432T

p.H1478Y

21.4

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ATG2A

SP0005277

chr11:
64665306-64665306

C

T

intronic

De novo

-

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ATG2A

SP0119183

chr11:
64681477-64681477

G

A

intronic

De novo

-

-

Fu2022 E

ATG2A

12605.p1

chr11:
64664194-64664194

G

A

intronic

De novo

-

Satterstrom2020 E

ATG2A

1-0701-003

chr11:
64681267-64681267

T

C

intronic

De novo

-

-

Yuen2017 G

ATG2A

2469_17au

chr11:
64673634-64673634

G

GC

exonic

De novo

frameshift insertion

NM_015104

c.3214dupG

p.A1072fs

-

-

Fu2022 E

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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