Variant Results

or

or

Results for "GREB1L"

Variant Events: 20

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

GREB1L

1-0184-003

chr18:
19034602-19034602

A

G

intronic

De novo

-

-

Yuen2017 G

GREB1L

AU2075302

chr18:
18854243-18854243

A

G

intronic

De novo

-

-

Yuen2017 G

GREB1L

11304.p1

chr18:
19093823-19093823

C

T

exonic

De novo

synonymous SNV

NM_001142966

c.C4777T

p.L1593L

-

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

GREB1L

AU3765302

chr18:
18891329-18891329

G

T

intronic

De novo

-

-

Yuen2017 G

GREB1L

1-0051-005

chr18:
18919108-18919108

T

A

intronic

De novo

-

-

Yuen2017 G

GREB1L

2-1341-004

chr18:
18879096-18879096

A

C

intronic

De novo

-

-

Yuen2017 G

GREB1L

SP0049955

chr18:
19093809-19093809

T

C

exonic

De novo

nonsynonymous SNV

NM_001142966

c.T4763C

p.L1588P

24.6

-

Fu2022 E
Zhou2022 GE

GREB1L

1-0329-003

chr18:
19065132-19065132

A

G

intronic

De novo

-

-

Yuen2017 G

GREB1L

13019.p1

chr18:
19093842-19093842

G

A

exonic

Mosaic

nonsynonymous SNV

NM_001142966

c.G4796A

p.R1599H

35.0

-

Dou2017 E

GREB1L

SP0150569

chr18:
18964211-18964211

C

T

exonic

De novo

nonsynonymous SNV

NM_001142966

c.C202T

p.R68C

20.7

Fu2022 E
Zhou2022 GE

GREB1L

A21

chr18:
18845695-18845695

T

C

intronic

De novo

-

-

Wu2018 G

GREB1L

2-0299-003

chr18:
19063353-19063353

A

G

intronic

De novo

-

-

Yuen2017 G

GREB1L

1-0218-004

chr18:
18920208-18920208

C

T

intronic

De novo

-

-

Yuen2017 G

GREB1L

1-0559-005

chr18:
18921492-18921492

A

C

intronic

De novo

-

-

Yuen2017 G

GREB1L

1-0531-003

Complex Event; expand row to view variants

De novo

-

-

Yuen2016 G
Yuen2017 G

GREB1L

SSC02407

chr18:
19093823-19093823

C

T

exonic

De novo

synonymous SNV

NM_001142966

c.C4777T

p.L1593L

-

-

Fu2022 E
Lim2017 E
Trost2022 G

GREB1L

AU027506

chr18:
18897962-18897962

C

T

intronic

De novo

-

-

Yuen2017 G

GREB1L

1-1000-003

chr18:
19061923-19061923

G

C

intronic

De novo

-

-

Yuen2017 G

GREB1L

AU3874303

chr18:
19079765-19079765

T

C

exonic

De novo

nonsynonymous SNV

NM_001142966

c.T3467C

p.F1156S

7.114

-

Yuen2017 G
Zhou2022 GE

GREB1L

GEA487

chr18:
19032063-19032063

G

A

exonic

De novo

synonymous SNV

NM_001142966

c.G1869A

p.L623L

-

-

Fu2022 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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