Variant Results

or

or

Results for "LRRC8D"

Variant Events: 24

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

LRRC8D

1-0352-003

chr1:
90454443-90454443

A

C

intergenic

De novo

-

-

Yuen2016 G

LRRC8D

2-0244-004

chr1:
90346231-90346231

C

CTAGA

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

LRRC8D

MSSNG00021-004

chr1:
90366617-90366617

C

A

intronic

De novo

-

-

Trost2022 G

LRRC8D

SP0076542

chr1:
90400539-90400539

G

A

exonic

De novo

nonsynonymous SNV

NM_001134479
NM_018103

c.G1912A
c.G1912A

p.A638T
p.A638T

1.845

-

Fu2022 E
Trost2022 G
Zhou2022 GE

LRRC8D

1-0935-003

chr1:
90320514-90320514

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

LRRC8D

2-0018-003

chr1:
90399875-90399875

T

C

exonic

De novo

synonymous SNV

NM_001134479
NM_018103

c.T1248C
c.T1248C

p.F416F
p.F416F

-

-

Yuen2015 G
Zhou2022 GE

LRRC8D

2-1277-004

chr1:
90292399-90292407

AGGGAAACC

GTT

intronic

De novo

-

-

Trost2022 G

LRRC8D

1-0269-005

chr1:
90419963-90419963

C

T

intergenic

De novo

-

-

Yuen2017 G

LRRC8D

1-1158-003

chr1:
90312493-90312493

G

A

intronic

De novo

-

-

Trost2022 G

LRRC8D

MT_24.3

chr1:
90310693-90310693

G

A

intronic

De novo

-

-

Trost2022 G

LRRC8D

AU072005

chr1:
90347418-90347418

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

LRRC8D

1-0756-003

chr1:
90303775-90303776

GA

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

LRRC8D

SMHC01311s000

chr1:
90400236-90400236

G

A

exonic

De novo

nonsynonymous SNV

NM_001134479
NM_018103

c.G1609A
c.G1609A

p.D537N
p.D537N

18.51

Yuan2023 E

LRRC8D

1014

chr1:
90341295-90341295

T

C

intronic

De novo

-

-

Trost2022 G

LRRC8D

1-0630-003

chr1:
90337869-90337869

C

T

intronic

De novo

-

-

Trost2022 G

LRRC8D

MSSNG00256-004

chr1:
90355162-90355162

T

C

intronic

De novo

-

-

Trost2022 G

LRRC8D

1-0903-004

chr1:
90342778-90342778

T

C

intronic

De novo

-

-

Trost2022 G

LRRC8D

AU4228301

chr1:
90352442-90352442

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

LRRC8D

7-0452-003

chr1:
90317504-90317504

C

G

intronic

De novo

-

-

Trost2022 G

LRRC8D

1-0352-005

chr1:
90454443-90454443

A

C

intergenic

De novo

-

-

Yuen2017 G

LRRC8D

MSSNG00422-003

chr1:
90313160-90313160

G

A

intronic

De novo

-

-

Trost2022 G

LRRC8D

7-0288-004

chr1:
90334342-90334342

G

T

intronic

De novo

-

-

Trost2022 G

LRRC8D

2-1277-004

chr1:
90372443-90372443

C

T

intronic

De novo

-

-

Yuen2017 G

LRRC8D

2-1723-003

chr1:
90325924-90325926

ATC

CAT

intronic

De novo

-

-

Trost2022 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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