Variant Results

or

Results for "ALS2"

Variant Events: 30

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

ALS2

2-1169-004

chr2:
202612179-202612179

C

T

intronic

De novo

-

Yuen2017 G

ALS2

2-1292-003

chr2:
202664608-202664608

C

T

intergenic

De novo

-

Yuen2017 G

ALS2

DEASD_0250_001

chr2:
202569184-202569184

G

A

exonic

De novo

nonsynonymous SNV

NM_020919

c.C4831T

p.R1611W

34.0

2.497E-5

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

ALS2

SSC02327

chr2:
202571654-202571654

G

A

exonic

De novo

nonsynonymous SNV

NM_020919

c.C4495T

p.R1499C

22.4

4.15E-5

Fu2022 E
Lim2017 E
Trost2022 G

ALS2

SP0028355

chr2:
202619140-202619140

T

C

intronic

De novo

-

Fu2022 E

ALS2

7-0389-003

chr2:
202592176-202592176

T

C

intronic

De novo

-

Trost2022 G

ALS2

MSSNG00222-003

chr2:
202596386-202596386

C

T

intronic

De novo

-

Trost2022 G

ALS2

iHART2490

chr2:
202582908-202582908

T

A

exonic

De novo

nonsynonymous SNV

NM_020919

c.A3728T

p.D1243V

25.8

-

Ruzzo2019 G

ALS2

SP0168849

chr2:
202568864-202568864

A

C

exonic

De novo

nonsynonymous SNV

NM_020919

c.T4916G

p.I1639R

23.9

-

Trost2022 G

ALS2

SP0053099

chr2:
202631923-202631923

C

T

intronic

De novo

-

Fu2022 E
Trost2022 G

ALS2

SP0049019

chr2:
202568866-202568866

A

C

exonic

De novo

synonymous SNV

NM_020919

c.T4914G

p.G1638G

-

Trost2022 G

ALS2

mAGRE5686

chr2:
202611293-202611293

C

CTACA

exonic

Maternal

stopgain

NM_020919

c.1993_1994insTGTA

p.S665_K666delinsMX

-

Cirnigliaro2023 G

ALS2

mAGRE5685

chr2:
202611293-202611293

C

CTACA

exonic

Maternal

stopgain

NM_020919

c.1993_1994insTGTA

p.S665_K666delinsMX

-

Cirnigliaro2023 G

ALS2

SP0049019

chr2:
202568864-202568864

A

C

exonic

De novo

nonsynonymous SNV

NM_020919

c.T4916G

p.I1639R

23.9

-

Trost2022 G

ALS2

mAGRE2490

chr2:
202582908-202582908

T

A

exonic

De novo

nonsynonymous SNV

NM_020919

c.A3728T

p.D1243V

25.8

-

Cirnigliaro2023 G

ALS2

AU4283301

chr2:
202631450-202631450

T

A

intronic

De novo

-

Trost2022 G

ALS2

AU3702307

chr2:
202617365-202617365

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ALS2

2-0149-005

chr2:
202631198-202631198

A

G

intronic

De novo

-

Yuen2017 G

ALS2

GEA448

chr2:
202626321-202626321

C

T

exonic

De novo

synonymous SNV

NM_001135745
NM_020919

c.G396A
c.G396A

p.P132P
p.P132P

-

4.97E-5

Fu2022 E

ALS2

2-1508-004

chr2:
202615680-202615680

A

C

intronic

De novo

-

Trost2022 G

ALS2

5-0017-003

chr2:
202631245-202631245

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ALS2

CC1285_201

chr2:
202617879-202617879

G

A

exonic

De novo

nonsynonymous SNV

NM_020919

c.C1727T

p.A576V

22.2

8.282E-6

Fu2022 E

ALS2

SP0161179

chr2:
202625526-202625526

T

A

exonic

De novo

stoploss

NM_001135745

c.A1191T

p.X397C

3.52

-

Trost2022 G

ALS2

MSSNG00421-007

chr2:
202610958-202610958

C

A

intronic

De novo

-

Trost2022 G

ALS2

2-1508-004

chr2:
202615677-202615677

A

C

intronic

De novo

-

Trost2022 G

ALS2

2-0242-004

chr2:
202631245-202631245

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ALS2

11547.p1

chr2:
202571654-202571654

G

A

exonic

De novo

nonsynonymous SNV

NM_020919

c.C4495T

p.R1499C

22.4

4.15E-5

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

ALS2

2-1275-003

chr2:
202579857-202579857

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ALS2

AU2975301

chr2:
202624288-202624288

A

G

UTR3

De novo

-

Trost2022 G
Yuen2017 G

ALS2

AU4212303

chr2:
202628582-202628582

G

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
Curation notes	View
	More