Variant Results

or

Results for "LRRIQ1"

Variant Events: 25

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

LRRIQ1

13154.p1

chr12:
85626531-85626531

T

G

exonic

De novo

synonymous SNV

NM_001079910

c.T5013G

p.L1671L

9.596

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G

LRRIQ1

74-0115

chr12:
85605030-85605030

T

C

intronic

De novo

-

Michaelson2012 G

LRRIQ1

11460.p1

Complex Event; expand row to view variants

De novo

nonframeshift insertion, stopgain

NM_001079910
NM_001079910

c.612_613insAGAAAAGCGACATTG
c.611_612insAGAAAAGCGACATTG

p.E204delinsERKATL
p.E204delinsEEKRHX

-

Ji2016 E
Krumm2015 E

LRRIQ1

2-1567-004

chr12:
85503832-85503832

G

A

intronic

De novo

-

Yuen2017 G

LRRIQ1

1-0009-004

chr12:
85637605-85637605

G

T

intronic

De novo

-

Yuen2017 G

LRRIQ1

13154_p1

chr12:
85626531-85626531

T

G

exonic

De novo

synonymous SNV

NM_001079910

c.T5013G

p.L1671L

9.596

-

Fu2022 E

LRRIQ1

GEA488

chr12:
85517967-85517967

A

G

exonic

De novo

nonsynonymous SNV

NM_001079910

c.A3677G

p.D1226G

3.862

-

Fu2022 E

LRRIQ1

5-0004-003

chr12:
85661051-85661053

CTT

C

intergenic

De novo

-

Yuen2017 G

LRRIQ1

7-0249-004

chr12:
85639783-85639783

A

G

downstream

De novo

-

Yuen2017 G

LRRIQ1

SSC02557

chr12:
85441181-85441181

A

AAGAAAAGCGACATTG

exonic

De novo

stopgain

NM_001079910

c.611_612insAGAAAAGCGACATTG

p.E204delinsEEKRHX

-

Fu2022 E

LRRIQ1

AU4467302

chr12:
85611492-85611492

A

G

intronic

De novo

-

Yuen2017 G

LRRIQ1

TRE_1015

chr12:
85446007-85446009

AAG

A

exonic

De novo

frameshift deletion

NM_001079910

c.732_733del

p.K244fs

-

Fu2022 E

LRRIQ1

iHART2959

chr12:
85492733-85492733

G

A

exonic

Paternal

stopgain

NM_001079910

c.G3170A

p.W1057X

41.0

4.155E-5

Ruzzo2019 G

LRRIQ1

iHART2962

chr12:
85492733-85492733

G

A

exonic

Paternal

stopgain

NM_001079910

c.G3170A

p.W1057X

41.0

4.155E-5

Ruzzo2019 G

LRRIQ1

iHART2061

chr12:
85547872-85547876

GGTGA

G

splicing

Maternal

splicing

-

Ruzzo2019 G

LRRIQ1

iHART2963

chr12:
85492733-85492733

G

A

exonic

Paternal

stopgain

NM_001079910

c.G3170A

p.W1057X

41.0

4.155E-5

Ruzzo2019 G

LRRIQ1

AU4032306

chr12:
85434609-85434609

C

T

intronic

De novo

-

Yuen2017 G

LRRIQ1

3-0111-000

chr12:
85615364-85615364

G

T

intronic

De novo

-

Yuen2016 G

LRRIQ1

SP0062728

chr12:
85518192-85518192

A

T

exonic

De novo

nonsynonymous SNV

NM_001079910

c.A3902T

p.D1301V

11.99

-

Fu2022 E

LRRIQ1

AU3763305

chr12:
85619793-85619793

A

G

intronic

De novo

-

Yuen2017 G

LRRIQ1

A17

chr12:
85647851-85647851

T

C

intergenic

De novo

-

Wu2018 G

LRRIQ1

SP0035148

chr12:
85439837-85439837

A

C

exonic

De novo

nonsynonymous SNV

NM_001079910

c.A376C

p.K126Q

2.96

-

Fu2022 E

LRRIQ1

2-1389-003

chr12:
85468942-85468942

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

LRRIQ1

AU047704

chr12:
85521987-85521987

T

A

intronic

De novo

-

Yuen2017 G

LRRIQ1

SP0080202

chr12:
85450361-85450361

T

G

exonic

De novo

stopgain

NM_001079910

c.T1790G

p.L597X

24.4

-

Fu2022 E

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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