Variant Results

or

or

Results for "LRGUK"

Variant Events: 23

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

LRGUK

mAGRE5594

chr7:
133848293-133848293

G

A

splicing

Paternal

splicing

20.1

Cirnigliaro2023 G

LRGUK

mAGRE5593

chr7:
133848293-133848293

G

A

splicing

Paternal

splicing

20.1

Cirnigliaro2023 G

LRGUK

09C99829

chr7:
133842813-133842813

A

G

exonic

De novo

synonymous SNV

NM_144648

c.A696G

p.G232G

-

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

LRGUK

2-1303-003

chr7:
133842813-133842813

A

G

exonic

De novo

synonymous SNV

NM_144648

c.A696G

p.G232G

-

-

Jiang2013 G
Yuen2016 G
Yuen2017 G
Zhou2022 GE

LRGUK

5-5162-003

chr7:
133870943-133870943

T

C

intronic

De novo

-

-

Trost2022 G

LRGUK

3-0485-000A

chr7:
133889678-133889678

C

T

intronic

De novo

-

-

Trost2022 G

LRGUK

5-0026-003

chr7:
133833505-133833509

CCTGC

TCCGT

intronic

De novo

-

-

Trost2022 G

LRGUK

4-0062-003

chr7:
133843653-133843653

A

G

intronic

De novo

-

-

Trost2022 G

LRGUK

5-0026-003

chr7:
133833493-133833493

C

G

intronic

De novo

-

-

Trost2022 G

LRGUK

68672

chr7:
133827810-133827810

C

T

intronic

De novo

-

Fu2022 E
Trost2022 G

LRGUK

5-0026-003

chr7:
133833498-133833499

CG

T

intronic

De novo

-

-

Trost2022 G

LRGUK

REACH000533

chr7:
133814311-133814311

G

A

intronic

De novo

-

-

Trost2022 G

LRGUK

1-0513-003

chr7:
133831077-133831077

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

LRGUK

AU4028302

chr7:
133907362-133907366

GTTTT

GTTTTTT

intronic

De novo

-

-

Yuen2017 G

LRGUK

MSSNG00392-003

chr7:
133948167-133948167

G

A

intronic

De novo

-

-

Trost2022 G

LRGUK

12180.p1

chr7:
133827810-133827810

C

T

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

LRGUK

SP0237647

chr7:
133932342-133932342

C

T

exonic

De novo

nonsynonymous SNV

NM_144648

c.C2018T

p.A673V

15.62

Trost2022 G

LRGUK

SP0072654

chr7:
133942946-133942946

G

A

intronic

De novo

-

-

Trost2022 G

LRGUK

A21

chr7:
133897908-133897908

T

A

intronic

De novo

-

-

Wu2018 G

LRGUK

7-0403-003

chr7:
133903033-133903033

G

A

intronic

De novo

-

-

Trost2022 G

LRGUK

1-1115-003

chr7:
133924797-133924798

CT

C

intronic

De novo

-

-

Trost2022 G

LRGUK

2-1155-003

chr7:
133971681-133971681

G

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

LRGUK

AU060703

chr7:
133877142-133877142

T

C

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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