Variant Results

or

Results for "EP400"

Variant Events: 27

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

EP400

SP0029297

chr12:
132529964-132529964

G

C

exonic

De novo

nonsynonymous SNV

NM_015409

c.G6885C

p.E2295D

10.91

-

Fu2022 E

EP400

SP0006750

chr12:
132446144-132446144

T

G

exonic

De novo

nonsynonymous SNV

NM_015409

c.T980G

p.V327G

8.074

-

Fu2022 E

EP400

146-09-111131

chr12:
132445545-132445545

G

A

exonic

De novo

synonymous SNV

NM_015409

c.G381A

p.L127L

-

Fu2022 E

EP400

SP0103857

chr12:
132529958-132529958

C

T

exonic

De novo

synonymous SNV

NM_015409

c.C6879T

p.R2293R

-

Fu2022 E

EP400

SSC07901

chr12:
132514317-132514317

A

C

exonic

De novo

nonsynonymous SNV

NM_015409

c.A5453C

p.Y1818S

8.482

-

Fu2022 E

EP400

SP0086715

chr12:
132498073-132498073

A

G

exonic

De novo

nonsynonymous SNV

NM_015409

c.A3650G

p.N1217S

14.86

-

Fu2022 E

EP400

SP0050119

chr12:
132445252-132445252

G

GGGCCCCCC

exonic

De novo

frameshift insertion

NM_015409

c.88_89insGGCCCCCC

p.A30fs

-

Fu2022 E

EP400

1-0745-003

chr12:
132446866-132446866

C

T

intronic

De novo

-

Yuen2017 G

EP400

ASC_CA_161_A

chr12:
132445833-132445833

C

T

exonic

De novo

synonymous SNV

NM_015409

c.C669T

p.P223P

-

Fu2022 E

EP400

SP0150012

chr12:
132475128-132475128

C

T

intronic

De novo

-

Fu2022 E

EP400

1-0806-003

chr12:
132520950-132520957

GAACAACA

GAACA

intronic

De novo

-

Yuen2017 G

EP400

1-0976-003

chr12:
132445592-132445592

C

T

exonic

De novo

nonsynonymous SNV

NM_015409

c.C428T

p.P143L

8.334

-

Yuen2017 G

EP400

AU075308

chr12:
132510280-132510280

G

A

exonic

Unknown

nonsynonymous SNV

NM_015409

c.G4945A

p.A1649T

12.9

0.003

Chahrour2012 E

EP400

12548.p1

chr12:
132516666-132516666

G

A

exonic

De novo

nonsynonymous SNV

NM_015409

c.G5923A

p.G1975R

14.27

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E

EP400

DEASD_0364_001

chr12:
132466931-132466931

A

ATCCC

exonic

De novo

frameshift insertion

NM_015409

c.1837_1838insTCCC

p.I613fs

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E

EP400

08C79227

chr12:
132498194-132498194

C

T

exonic

De novo

synonymous SNV

NM_015409

c.C3771T

p.V1257V

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

EP400

AU075308

chr12:
132522531-132522531

C

T

exonic

Unknown

nonsynonymous SNV

NM_015409

c.C6097T

p.P2033S

11.74

0.0011

Chahrour2012 E

EP400

AU1940304

chr12:
132446281-132446281

T

C

exonic

De novo

nonsynonymous SNV

NM_015409

c.T1117C

p.Y373H

1.185

9.0E-4

Yuen2017 G

EP400

2-1140-003

chr12:
132539992-132539992

G

GAA

intronic

De novo

-

Yuen2017 G

EP400

11226.p1

chr12:
132516561-132516561

C

T

exonic

Mosaic

nonsynonymous SNV

NM_015409

c.C5818T

p.R1940C

12.89

8.239E-6

Krupp2017 E

EP400

2-1508-004

chr12:
132561576-132561576

A

C

intronic

De novo

-

Yuen2017 G

EP400

13907.p1

chr12:
132514357-132514357

G

A

exonic

Mosaic, De novo

synonymous SNV

NM_015409

c.G5493A

p.E1831E

-

1.666E-5

Dou2017 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

EP400

14278.p1

chr12:
132530297-132530298

CT

C

exonic

De novo

frameshift deletion

NM_015409

c.7053delT

p.P2351fs

-

Ji2016 E

EP400

11241.p1

chr12:
132562223-132562223

G

T

UTR3

De novo

-

Krumm2015 E

EP400

AU1987304

chr12:
132483249-132483249

C

G

intronic

De novo

-

Yuen2017 G

EP400

1-0285-003

chr12:
132438357-132438357

T

C

intronic

De novo

-

Yuen2017 G

EP400

AU1894304

chr12:
132498565-132498565

G

T

intronic

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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