Variant Results

or

or

Results for "LRRC41"

Variant Events: 18

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

LRRC41

11414.p1

chr1:
46751263-46751263

G

C

exonic

De novo

synonymous SNV

NM_006369

c.C1266G

p.G422G

-

Satterstrom2020 E

LRRC41

2-1313-003

chr1:
46746333-46746333

A

G

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

LRRC41

SMHC01549s000

chr1:
46747039-46747039

A

C

exonic

De novo

nonsynonymous SNV

NM_006369

c.T1514G

p.F505C

17.95

-

Yuan2023 E

LRRC41

13813.p1

chr1:
46751327-46751327

C

T

exonic

De novo

nonsynonymous SNV

NM_006369

c.G1202A

p.R401H

13.04

Satterstrom2020 E
Zhou2022 GE

LRRC41

SSC08994

chr1:
46751327-46751327

C

T

exonic

De novo

nonsynonymous SNV

NM_006369

c.G1202A

p.R401H

13.04

Trost2022 G

LRRC41

PN400280

chr1:
46768880-46768880

C

A

exonic

Unknown

nonsynonymous SNV

NM_006369

c.G115T

p.G39C

27.4

Leblond2019 E

LRRC41

PN400104

chr1:
46768880-46768880

C

A

exonic

Unknown

nonsynonymous SNV

NM_006369

c.G115T

p.G39C

27.4

Leblond2019 E

LRRC41

5020

chr1:
46751263-46751263

G

C

exonic

De novo

synonymous SNV

NM_006369

c.C1266G

p.G422G

-

Trost2022 G

LRRC41

2-1313-003A

chr1:
46746333-46746333

A

G

intronic

De novo

-

-

Trost2022 G

LRRC41

PN400584

chr1:
46768880-46768880

C

A

exonic

Unknown

nonsynonymous SNV

NM_006369

c.G115T

p.G39C

27.4

Leblond2019 E

LRRC41

PN400100

chr1:
46768880-46768880

C

A

exonic

Unknown

nonsynonymous SNV

NM_006369

c.G115T

p.G39C

27.4

Leblond2019 E

LRRC41

PN400249

chr1:
46768880-46768880

C

A

exonic

Unknown

nonsynonymous SNV

NM_006369

c.G115T

p.G39C

27.4

Leblond2019 E

LRRC41

PN400343

chr1:
46768880-46768880

C

A

exonic

Unknown

nonsynonymous SNV

NM_006369

c.G115T

p.G39C

27.4

Leblond2019 E

LRRC41

PN400576

chr1:
46768880-46768880

C

A

exonic

Unknown

nonsynonymous SNV

NM_006369

c.G115T

p.G39C

27.4

Leblond2019 E

LRRC41

PN400441

chr1:
46768880-46768880

C

A

exonic

Unknown

nonsynonymous SNV

NM_006369

c.G115T

p.G39C

27.4

Leblond2019 E

LRRC41

PN400487

chr1:
46768880-46768880

C

A

exonic

Unknown

nonsynonymous SNV

NM_006369

c.G115T

p.G39C

27.4

Leblond2019 E

LRRC41

PN400372

chr1:
46768880-46768880

C

A

exonic

Unknown

nonsynonymous SNV

NM_006369

c.G115T

p.G39C

27.4

Leblond2019 E

LRRC41

SP0118854

chr1:
46751036-46751036

T

C

exonic

De novo

nonsynonymous SNV

NM_006369

c.A1493G

p.N498S

18.52

-

Fu2022 E
Zhou2022 GE

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