Variant Results

or

Results for "RGMA"

Variant Events: 49

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

RGMA

1-0715-003

chr15:
94124716-94124716

T

C

intergenic

De novo

-

Yuen2017 G

RGMA

AU2495301

chr15:
93777963-93777963

C

T

intergenic

De novo

-

Yuen2017 G

RGMA

1-0263-003

chr15:
94088953-94088953

C

T

intergenic

De novo

-

Yuen2016 G

RGMA

AU3636302

chr15:
94016891-94016891

T

G

intergenic

De novo

-

Yuen2017 G

RGMA

AU3900302

chr15:
93785343-93785349

AGAGGAG

AGAG

intergenic

De novo

-

Yuen2017 G

RGMA

AU3716302

chr15:
94043280-94043280

C

G

intergenic

De novo

-

Yuen2017 G

RGMA

AU3721302

chr15:
94190113-94190113

C

T

intergenic

De novo

-

Yuen2017 G

RGMA

12175.p1

chr15:
93936932-93936932

C

T

intergenic

De novo

-

Turner2016 G

RGMA

AU006A

chr15:
93588220-93588220

C

G

UTR3

De novo

-

Kosmicki2017 E
Satterstrom2020 E

RGMA

2-0242-003

chr15:
93835763-93835763

A

G

intergenic

De novo

-

Yuen2017 G

RGMA

SSC02779

chr15:
93588403-93588403

G

A

exonic

De novo

nonsynonymous SNV

NM_001166286
NM_001166283
NM_001166287
NM_001166288
NM_001166289
NM_020211

c.C1130T
c.C1202T
c.C1130T
c.C1130T
c.C1130T
c.C1178T

p.A377V
p.A401V
p.A377V
p.A377V
p.A377V
p.A393V

19.03

-

Lim2017 E

RGMA

1-0473-003

chr15:
93923453-93923456

AAAC

A

intergenic

De novo

-

Yuen2017 G

RGMA

1-0197-003

chr15:
94283548-94283548

A

AAAC

intergenic

De novo

-

Yuen2017 G

RGMA

2-1138-003

chr15:
94236156-94236156

C

T

intergenic

De novo

-

Yuen2017 G

RGMA

2-1619-004

chr15:
93835770-93835770

T

C

intergenic

De novo

-

Yuen2017 G

RGMA

AU3052302

chr15:
94067493-94067493

G

T

intergenic

De novo

-

Yuen2017 G

RGMA

1-0191-003

chr15:
93925241-93925241

G

T

intergenic

De novo

-

Yuen2017 G

RGMA

AU046706

chr15:
94177705-94177705

C

T

intergenic

De novo

-

Yuen2017 G

RGMA

7-0249-004

chr15:
94272101-94272101

G

A

intergenic

De novo

-

Yuen2017 G

RGMA

AU4056301

chr15:
93872728-93872728

T

C

intergenic

De novo

-

Yuen2017 G

RGMA

5-0003-004

chr15:
93835729-93835729

T

A

intergenic

De novo

-

Yuen2017 G

RGMA

AU3506302

chr15:
93935585-93935585

G

A

intergenic

De novo

-

Yuen2017 G

RGMA

AU065807

chr15:
94358995-94358995

G

C

intergenic

De novo

-

Yuen2017 G

RGMA

1-0435-003

chr15:
93943800-93943800

G

A

intergenic

De novo

-

Yuen2017 G

RGMA

AU4054302

chr15:
93893412-93893412

A

C

intergenic

De novo

-

Yuen2017 G

RGMA

2-1510-003

chr15:
94144298-94144298

C

T

intergenic

De novo

-

Yuen2017 G

RGMA

AU2437302

chr15:
93612229-93612229

T

C

intronic

De novo

-

Yuen2017 G

RGMA

2-1327-004

chr15:
93680531-93680531

C

G

intergenic

De novo

-

Yuen2017 G

RGMA

3-0482-000

chr15:
93610440-93610440

G

C

intronic

De novo

-

Yuen2017 G

RGMA

2-1327-004

chr15:
93680637-93680637

C

T

intergenic

De novo

-

Yuen2017 G

RGMA

1-0339-003

chr15:
94111798-94111798

T

G

intergenic

De novo

-

Yuen2017 G

RGMA

2-0303-004

chr15:
94303608-94303608

A

G

intergenic

De novo

-

Yuen2017 G

RGMA

1-0745-003

chr15:
93609321-93609321

G

A

intronic

De novo

-

Yuen2017 G

RGMA

AU3761302

chr15:
94328497-94328497

C

T

intergenic

De novo

-

Yuen2017 G

RGMA

2-1089-003

chr15:
94116234-94116234

T

A

intergenic

De novo

-

Yuen2017 G

RGMA

EGAN00001101421

chr15:
94304150-94304150

C

G

intergenic

De novo

-

Satterstrom2020 E

RGMA

1-0372-003

chr15:
93732232-93732232

G

T

intergenic

De novo

-

Yuen2017 G

RGMA

1-0494-003A

chr15:
93727311-93727311

T

C

intergenic

De novo

-

Yuen2017 G

RGMA

2-1505-004

chr15:
93835763-93835763

A

G

intergenic

De novo

-

Yuen2017 G

RGMA

11627.p1

chr15:
93588403-93588403

G

A

exonic

De novo

nonsynonymous SNV

NM_001166286
NM_001166283
NM_001166287
NM_001166288
NM_001166289
NM_020211

c.C1130T
c.C1202T
c.C1130T
c.C1130T
c.C1130T
c.C1178T

p.A377V
p.A401V
p.A377V
p.A377V
p.A377V
p.A393V

19.03

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E

RGMA

13333.p1

chr15:
93588446-93588446

C

T

exonic

De novo

nonsynonymous SNV

NM_001166286
NM_001166283
NM_001166287
NM_001166288
NM_001166289
NM_020211

c.G1087A
c.G1159A
c.G1087A
c.G1087A
c.G1087A
c.G1135A

p.V363I
p.V387I
p.V363I
p.V363I
p.V363I
p.V379I

24.9

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G

RGMA

AU1860302

chr15:
93660804-93660804

A

G

intergenic

De novo

-

Yuen2017 G

RGMA

iHART3160

chr15:
93616956-93616956

T

TC

exonic

Maternal

frameshift insertion

NM_001166283

c.29dupG

p.G10fs

-

Ruzzo2019 G

RGMA

iHART3163

chr15:
93616956-93616956

T

TC

exonic

Maternal

frameshift insertion

NM_001166283

c.29dupG

p.G10fs

-

Ruzzo2019 G

RGMA

AU2137304

chr15:
93939772-93939772

A

G

intergenic

De novo

-

Yuen2017 G

RGMA

14460.p1

chr15:
94053899-94053899

G

GT

intergenic

De novo

-

Werling2018 G

RGMA

2-1428-003

chr15:
94363006-94363006

A

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

RGMA

AU3861303

chr15:
94146612-94146612

A

G

intergenic

De novo

-

Yuen2017 G

RGMA

1-0494-003

chr15:
93727311-93727311

T

C

intergenic

De novo

-

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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