Variant Results

or

Results for "LRRC8B"

Variant Events: 15

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

LRRC8B

1-0965-003

chr1:
90026680-90026680

A

G

intronic

De novo

-

Yuen2017 G

LRRC8B

AU005213

chr1:
90050806-90050806

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

LRRC8B

SP0019702

chr1:
90048813-90048813

G

A

exonic

De novo

nonsynonymous SNV

NM_015350
NM_001134476

c.G604A
c.G604A

p.G202S
p.G202S

0.008

9.923E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

LRRC8B

7-0347-003

chr1:
89997515-89997515

T

C

intronic

De novo

-

Trost2022 G

LRRC8B

5-5227-003

chr1:
89992507-89992507

A

G

intronic

De novo

-

Trost2022 G

LRRC8B

1-0380-003

chr1:
90048133-90048133

G

T

intronic

De novo

-

Trost2022 G

LRRC8B

7-0347-003

chr1:
89998324-89998324

A

C

intronic

De novo

-

Trost2022 G

LRRC8B

1-0104-004

chr1:
90047262-90047262

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

LRRC8B

REACH000349

chr1:
90056889-90056889

A

G

intronic

De novo

-

Trost2022 G

LRRC8B

SP0182449

chr1:
90050096-90050099

TCAG

T

exonic

De novo

nonframeshift deletion

NM_015350
NM_001134476

c.1888_1890del
c.1888_1890del

p.630_630del
p.630_630del

-

Trost2022 G

LRRC8B

2-0171-003

chr1:
90010161-90010161

A

ATAATAATATCCC

intronic

De novo

-

Yuen2017 G

LRRC8B

REACH000120

chr1:
90057732-90057732

C

T

intronic

De novo

-

Trost2022 G

LRRC8B

11569.p1

chr1:
90049523-90049523

G

A

exonic

De novo

synonymous SNV

NM_015350
NM_001134476

c.G1314A
c.G1314A

p.E438E
p.E438E

-

Iossifov2014 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

LRRC8B

TRE_256

chr1:
90048505-90048505

G

A

exonic

De novo

nonsynonymous SNV

NM_015350
NM_001134476

c.G296A
c.G296A

p.R99Q
p.R99Q

15.12

-

Fu2022 E

LRRC8B

AU4007302

chr1:
90071827-90071827

G

A

intergenic

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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