Variant Results

or

Results for "ATG2B"

Variant Events: 19

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

ATG2B

1-0209-003

chr14:
96828042-96828042

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ATG2B

11223.p1

chr14:
96756895-96756895

T

C

exonic

De novo

nonsynonymous SNV

NM_018036

c.A5734G

p.I1912V

22.9

9.893E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

ATG2B

AU3692302

chr14:
96820162-96820162

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ATG2B

9190764

chr14:
96795180-96795180

A

G

intronic

De novo

-

Fu2022 E

ATG2B

11463.p1

chr14:
96794738-96794738

T

G

exonic

De novo

synonymous SNV

NM_018036

c.A2109C

p.T703T

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

ATG2B

2-0215-003

chr14:
96780757-96780757

T

TA

intronic

De novo

-

Trost2022 G
Yuen2017 G

ATG2B

mAGRE1880

chr14:
96773170-96773170

G

A

exonic

Maternal

stopgain

NM_018036

c.C4387T

p.Q1463X

50.0

8.261E-6

Cirnigliaro2023 G

ATG2B

5-0053-003

chr14:
96776871-96776871

T

C

intronic

De novo

-

Trost2022 G

ATG2B

2-1292-003

chr14:
96775903-96775903

C

T

exonic

De novo

nonsynonymous SNV

NM_018036

c.G4190A

p.R1397H

13.04

2.478E-5

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

ATG2B

3-0391-000

chr14:
96814526-96814526

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ATG2B

2-1688-003

chr14:
96779460-96779460

C

T

exonic

De novo

nonsynonymous SNV

NM_018036

c.G3784A

p.V1262M

16.76

2.482E-5

Trost2022 G
Zhou2022 GE

ATG2B

iHART1880

chr14:
96773170-96773170

G

A

exonic

Maternal

stopgain

NM_018036

c.C4387T

p.Q1463X

50.0

8.261E-6

Ruzzo2019 G

ATG2B

68591

chr14:
96794738-96794738

T

G

exonic

De novo

synonymous SNV

NM_018036

c.A2109C

p.T703T

-

Fu2022 E
Trost2022 G

ATG2B

AU4372309

chr14:
96795775-96795775

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ATG2B

iHART1879

chr14:
96773170-96773170

G

A

exonic

Maternal

stopgain

NM_018036

c.C4387T

p.Q1463X

50.0

8.261E-6

Ruzzo2019 G

ATG2B

SP0117039

chr14:
96756097-96756097

A

T

exonic

De novo

nonsynonymous SNV

NM_018036

c.T5902A

p.S1968T

15.54

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ATG2B

SP0084485

chr14:
96758009-96758009

G

A

exonic

De novo

nonsynonymous SNV

NM_018036

c.C5507T

p.A1836V

34.0

1.65E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

ATG2B

mAGRE1879

chr14:
96773170-96773170

G

A

exonic

Maternal

stopgain

NM_018036

c.C4387T

p.Q1463X

50.0

8.261E-6

Cirnigliaro2023 G

ATG2B

Lim2017:68591

chr14:
96794738-96794738

T

G

exonic

De novo

synonymous SNV

NM_018036

c.A2109C

p.T703T

-

Lim2017 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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