Variant Results

or

or

Results for "KSR2"

Variant Events: 29

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

KSR2

13825.p1

chr12:
118122627-118122627

T

C

intronic

De novo

-

-

Wilfert2021 G

KSR2

1-0186-004

chr12:
118095925-118095925

G

A

intronic

De novo

-

-

Yuen2017 G

KSR2

2-1409-003

chr12:
118019249-118019249

A

C

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

KSR2

2-1690-003

chr12:
118376934-118376934

A

C

intronic

De novo

-

-

Yuen2017 G

KSR2

AU063004

chr12:
118068497-118068497

A

T

intronic

De novo

-

-

Yuen2017 G

KSR2

SP0099588

chr12:
117977604-117977605

AG

A

exonic

De novo

frameshift deletion

NM_173598

c.1519delC

p.L507fs

-

-

Antaki2022 GE
Fu2022 E

KSR2

2-0132-004

chr12:
118181340-118181340

C

T

intronic

De novo

-

-

Yuen2017 G

KSR2

AU0786305

chr12:
118128038-118128038

G

C

intronic

De novo

-

-

Yuen2017 G

KSR2

AU4239301

chr12:
118021390-118021392

CTT

C

intronic

De novo

-

-

Yuen2017 G

KSR2

1-0303-003

chr12:
118107119-118107120

TA

T

intronic

De novo

-

-

Yuen2017 G

KSR2

AU006804

chr12:
117987784-117987785

CA

C

intronic

De novo

-

-

Yuen2017 G

KSR2

AU3761302

chr12:
118165367-118165367

G

A

intronic

De novo

-

-

Yuen2017 G

KSR2

1-0494-003A

chr12:
117931993-117931993

C

T

intronic

De novo

-

-

Yuen2017 G

KSR2

16.s1

chr12:
117922337-117922337

G

T

exonic

De novo

nonsynonymous SNV

NM_173598

c.C2247A

p.H749Q

17.65

-

An2014 E

KSR2

2-1315-003

chr12:
118097041-118097041

C

G

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

KSR2

AU3911301

chr12:
118014629-118014645

TTGTGTGTGTGTGTGTG

TTGTGTGTGTGTGTGTGTG

intronic

De novo

-

-

Yuen2017 G

KSR2

AU2075302

chr12:
118143148-118143148

C

G

intronic

De novo

-

-

Yuen2017 G

KSR2

1-0257-003

chr12:
118372787-118372787

C

T

intronic

De novo

-

-

Yuen2017 G

KSR2

7-0141-003

chr12:
118152243-118152243

C

G

intronic

De novo

-

-

Yuen2017 G

KSR2

AU4056301

chr12:
118452210-118452210

G

C

intergenic

De novo

-

-

Yuen2017 G

KSR2

1-0579-003

chr12:
118150935-118150949

CTAGATAGATAGATA

CTAGATAGATA

intronic

De novo

-

-

Yuen2017 G

KSR2

AU1521301

chr12:
118431651-118431651

A

G

intergenic

De novo

-

-

Yuen2017 G

KSR2

1-0494-003

chr12:
117931993-117931993

C

T

intronic

De novo

-

-

Yuen2017 G

KSR2

5-0041-003

chr12:
118309449-118309449

G

C

intronic

De novo

-

-

Yuen2017 G

KSR2

AU2437302

chr12:
118370555-118370555

C

T

intronic

De novo

-

-

Yuen2017 G

KSR2

AU3874301

chr12:
118149669-118149669

T

C

intronic

De novo

-

-

Yuen2017 G

KSR2

SP0064457

chr12:
117993029-117993029

C

T

exonic

De novo

nonsynonymous SNV

NM_173598

c.G1376A

p.R459H

13.61

-

Fu2022 E

KSR2

AU4150301

chr12:
118151402-118151402

A

G

intronic

De novo

-

-

Yuen2017 G

KSR2

AU3154302

chr12:
117957358-117957358

G

A

intronic

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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