Variant Results

or

or

Results for "GREB1"

Variant Events: 29

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

GREB1

G01-GEA-31-HI

chr2:
11733242-11733242

C

T

exonic

De novo

synonymous SNV

NM_014668

c.C1686T

p.I562I

-

-

Lim2017 E

GREB1

MSSNG00389-003

chr2:
11680609-11680609

G

A

intronic

De novo

-

-

Trost2022 G

GREB1

MSSNG00408-003

chr2:
11677420-11677420

A

G

intronic

De novo

-

-

Trost2022 G

GREB1

4-0062-003

chr2:
11691048-11691049

AG

TT

intronic

De novo

-

-

Trost2022 G

GREB1

MSSNG00044-004

chr2:
11688232-11688232

A

G

intronic

De novo

-

-

Trost2022 G

GREB1

2-0318-004

chr2:
11711720-11711720

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GREB1

AU024104

chr2:
11744130-11744130

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GREB1

SP0072739

chr2:
11727869-11727869

G

A

UTR3

De novo

-

-

Trost2022 G

GREB1

SP0047842

chr2:
11727869-11727869

G

A

UTR3

De novo

-

-

Trost2022 G

GREB1

SP0087416

chr2:
11727869-11727869

G

A

UTR3

De novo

-

-

Trost2022 G

GREB1

SP0087329

chr2:
11727869-11727869

G

A

UTR3

De novo

-

-

Trost2022 G

GREB1

7-0274-003

chr2:
11758421-11758421

G

A

exonic

De novo

synonymous SNV

NM_014668

c.G3420A

p.A1140A

-

Trost2022 G
Zhou2022 GE

GREB1

SP0113212

chr2:
11706512-11706512

C

G

intronic

De novo

-

-

Trost2022 G

GREB1

MSSNG00392-003

chr2:
11702530-11702530

G

A

intronic

De novo

-

-

Trost2022 G

GREB1

SP0047841

chr2:
11727869-11727869

G

A

UTR3

De novo

-

-

Trost2022 G

GREB1

SP0035278

chr2:
11727869-11727869

G

A

UTR3

De novo

-

-

Trost2022 G

GREB1

1-0402-004

chr2:
11773861-11773861

G

GC

intronic

De novo

-

-

Yuen2017 G

GREB1

MSSNG00357-003

chr2:
11745031-11745031

G

C

intronic

De novo

-

-

Trost2022 G

GREB1

SP0087777

chr2:
11758947-11758947

A

G

exonic

De novo

nonsynonymous SNV

NM_014668

c.A3946G

p.T1316A

26.4

-

Fu2022 E
Trost2022 G
Zhou2022 GE

GREB1

SP0123725

chr2:
11727869-11727869

G

A

UTR3

De novo

-

-

Trost2022 G

GREB1

1-0373-003

chr2:
11759974-11759974

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GREB1

SP0107038

chr2:
11738884-11738884

C

T

exonic

De novo

nonsynonymous SNV

NM_014668

c.C2231T

p.T744M

4.166

Fu2022 E
Trost2022 G
Zhou2022 GE

GREB1

SP0096824

chr2:
11727869-11727869

G

A

UTR3

De novo

-

-

Trost2022 G

GREB1

SP0094267

chr2:
11752541-11752541

G

C

intronic

De novo

-

-

Fu2022 E

GREB1

3-0640-000

chr2:
11742938-11742938

A

G

intronic

De novo

-

-

Trost2022 G

GREB1

SP0016354

chr2:
11742443-11742444

AC

A

intronic

De novo

-

-

Fu2022 E

GREB1

SP0152533

chr2:
11727869-11727869

G

A

UTR3

De novo

-

-

Trost2022 G

GREB1

NDAR_INVMK181HMA_wes1

chr2:
11765413-11765413

G

A

exonic

De novo

synonymous SNV

NM_014668

c.G4281A

p.S1427S

-

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

GREB1

2-1339-003

chr2:
11770552-11770552

A

G

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