Variant Results

or

Results for "LRRC7"

Variant Events: 94

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

LRRC7

SP0125260

chr1:
70504692-70504692

C

CA

exonic

De novo

frameshift insertion

NM_020794

c.3072dupA

p.T1024fs

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

LRRC7

7-0059-003

chr1:
70235975-70235975

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

LRRC7

2-1341-003

chr1:
70291463-70291467

TGTAA

T

exonic

De novo

frameshift deletion

NM_020794

c.341_344del

p.C114fs

-

Yuen2015 G

LRRC7

AU2975302

chr1:
69345366-69345366

C

T

intergenic

De novo

-

Yuen2017 G

LRRC7

AU2975302

chr1:
70027153-70027153

A

G

intergenic

De novo

-

Yuen2017 G

LRRC7

5-0117-003

chr1:
69715010-69715010

C

T

intergenic

De novo

-

Yuen2017 G

LRRC7

5-0117-003

chr1:
70325361-70325361

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

LRRC7

AU031204

chr1:
69736636-69736636

C

T

intergenic

De novo

-

Yuen2017 G

LRRC7

AU065304

chr1:
69626935-69626935

A

AT

intergenic

De novo

-

Yuen2017 G

LRRC7

5-0017-003

chr1:
69448815-69448815

C

T

intergenic

De novo

-

Yuen2017 G

LRRC7

2-1378-003

chr1:
69544900-69544900

A

G

intergenic

De novo

-

Yuen2017 G

LRRC7

1-0565-004

chr1:
70356873-70356873

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

LRRC7

5-0110-003

chr1:
69096085-69096085

T

C

intergenic

De novo

-

Yuen2017 G

LRRC7

7-0314-003A

chr1:
70161032-70161032

C

A

intergenic

De novo

-

Trost2022 G

LRRC7

5-0053-003

chr1:
70153719-70153719

T

C

intergenic

De novo

-

Trost2022 G

LRRC7

7-0100-004

chr1:
70194615-70194618

GCAT

G

intergenic

De novo

-

Trost2022 G

LRRC7

MSSNG00003-004

chr1:
70169462-70169462

G

A

intergenic

De novo

-

Trost2022 G

LRRC7

3-0391-000

chr1:
69191829-69191829

T

C

intergenic

De novo

-

Yuen2017 G

LRRC7

AU3761302

chr1:
70087803-70087803

A

G

intergenic

De novo

-

Trost2022 G
Yuen2017 G

LRRC7

1-0443-003

chr1:
70375856-70375856

T

C

intronic

De novo

-

Yuen2016 G

LRRC7

13023.p1

chr1:
69427632-69427632

A

G

intergenic

De novo

-

Turner2016 G

LRRC7

3-0391-000

chr1:
70537816-70537816

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

LRRC7

REACH000219

chr1:
70144623-70144623

G

A

intergenic

De novo

-

Trost2022 G

LRRC7

10-0001-003

chr1:
70137858-70137858

G

A

intergenic

De novo

-

Trost2022 G

LRRC7

MSSNG00369-003

chr1:
70391376-70391376

C

T

intronic

De novo

-

Trost2022 G

LRRC7

AU2089301

chr1:
69501162-69501162

G

A

intergenic

De novo

-

Yuen2017 G

LRRC7

MSSNG00369-003

chr1:
70391372-70391372

C

T

intronic

De novo

-

Trost2022 G

LRRC7

13393.p1

chr1:
69448840-69448840

T

C

intergenic

De novo

-

Turner2016 G

LRRC7

AU072504

chr1:
69683091-69683091

C

A

intergenic

De novo

-

Yuen2017 G

LRRC7

MSSNG00422-003

chr1:
70410314-70410314

A

G

intronic

De novo

-

Trost2022 G

LRRC7

11456.p1

chr1:
69932513-69932513

C

T

intergenic

De novo

-

Turner2016 G

LRRC7

2-1501-003

chr1:
69432090-69432091

AG

AGG

intergenic

De novo

-

Yuen2017 G

LRRC7

AU072504

chr1:
69739157-69739157

G

A

intergenic

De novo

-

Yuen2017 G

LRRC7

AU4356302

chr1:
69317767-69317767

G

A

intergenic

De novo

-

Yuen2017 G

LRRC7

5-5162-003

chr1:
70397605-70397606

AC

A

intronic

De novo

-

Trost2022 G

LRRC7

2-1317-003

chr1:
70247576-70247576

G

A

intronic

De novo

-

Trost2022 G

LRRC7

1-0289-003

chr1:
69891153-69891153

A

C

intergenic

De novo

-

Yuen2017 G

LRRC7

2-0103-004

chr1:
70212246-70212246

A

T

intergenic

De novo

-

Trost2022 G

LRRC7

MSSNG00039-003

chr1:
70374958-70374958

A

G

intronic

De novo

-

Trost2022 G

LRRC7

AU2828301

chr1:
70308897-70308898

CA

C

intronic

De novo

-

Trost2022 G

LRRC7

MSSNG00423-003

chr1:
70486228-70486228

A

T

intronic

De novo

-

Trost2022 G

LRRC7

2-1195-003

chr1:
69971086-69971086

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LRRC7

AU4089301

chr1:
70027082-70027082

C

T

intergenic

De novo

-

Yuen2017 G

LRRC7

7-0303-003

chr1:
70472070-70472070

G

A

intronic

De novo

-

Trost2022 G

LRRC7

2-1743-003A

chr1:
70524892-70524892

G

A

intronic

De novo

-

Trost2022 G

LRRC7

4-0062-003

chr1:
70520084-70520085

TA

AT

intronic

De novo

-

Trost2022 G

LRRC7

3-0752-000

chr1:
70417681-70417681

G

A

intronic

De novo

-

Trost2022 G

LRRC7

2-1140-003

chr1:
69913331-69913331

C

T

intergenic

De novo

-

Yuen2017 G

LRRC7

MSSNG00378-003

chr1:
70412129-70412129

G

A

intronic

De novo

-

Trost2022 G

LRRC7

AU3586303

chr1:
70443943-70443943

G

A

intronic

De novo

-

Trost2022 G

LRRC7

2-1644-003

chr1:
69629366-69629366

G

C

intergenic

De novo

-

Yuen2017 G

LRRC7

MT_27.3

chr1:
70441911-70441911

T

C

intronic

De novo

-

Trost2022 G

LRRC7

MSSNG00003-004

chr1:
70571212-70571212

G

A

intronic

De novo

-

Trost2022 G

LRRC7

AU1725302

chr1:
69367454-69367454

A

G

intergenic

De novo

-

Yuen2017 G

LRRC7

7-0337-004

chr1:
70526815-70526815

C

G

intronic

De novo

-

Trost2022 G

LRRC7

AU3807302

chr1:
70342792-70342792

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

LRRC7

AU4223302

chr1:
69961087-69961087

A

T

intergenic

De novo

-

Yuen2017 G

LRRC7

REACH000198

chr1:
70598406-70598406

G

A

intergenic

De novo

-

Trost2022 G

LRRC7

2-1380-003

chr1:
69320454-69320454

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LRRC7

5-0146-003

chr1:
70014278-70014278

A

C

intergenic

De novo

-

Yuen2017 G

LRRC7

AU3912302

chr1:
69797243-69797243

T

C

intergenic

De novo

-

Yuen2017 G

LRRC7

5-0021-003

chr1:
69067655-69067655

T

G

intergenic

De novo

-

Yuen2017 G

LRRC7

1-0652-003

chr1:
70595493-70595493

A

G

intergenic

De novo

-

Trost2022 G
Yuen2017 G

LRRC7

2-0028-003

chr1:
70274978-70274978

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

LRRC7

3-0134-000

chr1:
69706460-69706460

A

C

intergenic

De novo

-

Yuen2017 G

LRRC7

2-1328-003

chr1:
69194650-69194650

T

C

intergenic

De novo

-

Yuen2017 G

LRRC7

2-1116-003

chr1:
69702121-69702121

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LRRC7

AU006804

chr1:
70271257-70271257

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

LRRC7

1-0065-004

chr1:
70327505-70327505

G

GACACTGGAAATCAC

intronic

De novo

-

Yuen2017 G

LRRC7

1-0806-003

chr1:
69617419-69617419

A

G

intergenic

De novo

-

Yuen2017 G

LRRC7

2-0309-005

chr1:
69870242-69870242

G

T

intergenic

De novo

-

Yuen2017 G

LRRC7

2-1277-004

chr1:
69775112-69775112

A

C

intergenic

De novo

-

Yuen2017 G

LRRC7

AU058104

chr1:
69277065-69277065

T

C

intergenic

De novo

-

Yuen2017 G

LRRC7

1-0454-003

chr1:
69152970-69152970

G

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LRRC7

AU4176302

chr1:
70055050-70055050

T

G

intergenic

De novo

-

Trost2022 G
Yuen2017 G

LRRC7

AU3175303

chr1:
69593338-69593338

T

C

intergenic

De novo

-

Yuen2017 G

LRRC7

SP0050875

chr1:
70446036-70446036

C

G

intronic

De novo

-

Fu2022 E

LRRC7

5-0114-003

chr1:
69633728-69633728

G

C

intergenic

De novo

-

Yuen2017 G

LRRC7

2-1176-003

chr1:
70312158-70312158

G

A

intronic

De novo

-

Yuen2017 G

LRRC7

2-1364-003

chr1:
70043413-70043413

T

C

intergenic

De novo

-

Yuen2017 G

LRRC7

5-0114-003

chr1:
69962526-69962526

A

C

intergenic

De novo

-

Yuen2017 G

LRRC7

2-1577-003

chr1:
70273474-70273474

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

LRRC7

2-1277-003

chr1:
69775112-69775112

A

C

intergenic

De novo

-

Yuen2017 G

LRRC7

2-0070-003

chr1:
70571968-70571968

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

LRRC7

1-0417-003

chr1:
70217058-70217058

T

C

intergenic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

LRRC7

2-1480-003

chr1:
69561311-69561311

A

G

intergenic

De novo

-

Yuen2016 G

LRRC7

AU4188302

chr1:
70120176-70120176

C

T

intergenic

De novo

-

Trost2022 G
Yuen2017 G

LRRC7

2-1359-003

chr1:
69587536-69587536

C

T

intergenic

De novo

-

Yuen2017 G

LRRC7

2-1368-003

chr1:
69018005-69018005

A

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LRRC7

2-1389-003

chr1:
70560260-70560260

A

G

intronic

De novo

-

Yuen2017 G

LRRC7

1-0640-003

chr1:
69399515-69399515

G

A

intergenic

De novo

-

Yuen2017 G

LRRC7

7-0059-003

chr1:
70082307-70082307

C

T

intergenic

De novo

-

Trost2022 G
Yuen2017 G

LRRC7

1-0079-003

chr1:
70294629-70294633

TAAGG

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

LRRC7

1-0255-003

chr1:
69467250-69467250

G

A

intergenic

De novo

-

Yuen2016 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
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