Variant Results

or

or

Results for "KIDINS220"

Variant Events: 22

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

KIDINS220

SP0128667

chr2:
8910804-8910804

C

T

exonic

De novo

nonsynonymous SNV

NM_020738

c.G3007A

p.E1003K

33.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

KIDINS220

AU3635301

chr2:
8903809-8903809

T

C

intronic

De novo

-

-

Yuen2017 G

KIDINS220

1-0458-004

chr2:
8903159-8903163

TTCTA

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

KIDINS220

SP0076540

chr2:
8871872-8871873

CT

C

exonic

De novo

frameshift deletion

NM_020738

c.4293delA

p.L1431fs

-

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

KIDINS220

mAGRE5321

chr2:
8888113-8888113

G

C

exonic

Maternal

stopgain

NM_020738

c.C3432G

p.Y1144X

42.0

Cirnigliaro2023 G

KIDINS220

200675499_1082035007

chr2:
8871599-8871599

C

T

exonic

De novo

nonsynonymous SNV

NM_020738

c.G4567A

p.E1523K

21.1

-

Fu2022 E

KIDINS220

AU063005

chr2:
8976010-8976010

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

KIDINS220

1-1018-003

chr2:
8887917-8887917

C

T

intronic

De novo

-

-

Trost2022 G

KIDINS220

2-1251-003

chr2:
8946309-8946309

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

KIDINS220

PN400540

chr2:
8957755-8957755

C

T

exonic

Unknown

nonsynonymous SNV

NM_020738

c.G299A

p.R100H

23.4

Leblond2019 E

KIDINS220

111310

chr2:
8871659-8871659

A

G

exonic

nonsynonymous SNV

NM_020738

c.T4507C

p.F1503L

21.2

Woodbury-Smith2022 E

KIDINS220

1-1035-003

chr2:
8880278-8880278

G

A

intronic

De novo

-

-

Trost2022 G

KIDINS220

REACH000640

chr2:
8950737-8950737

G

C

intronic

De novo

-

-

Trost2022 G

KIDINS220

Chen2017:61

chr2:
8871599-8871599

C

T

exonic

De novo

nonsynonymous SNV

NM_020738

c.G4567A

p.E1523K

21.1

-

Chen2017 E

KIDINS220

3-0666-001

chr2:
8921047-8921047

C

T

intronic

De novo

-

-

Trost2022 G

KIDINS220

200675499@1082035007

chr2:
8871599-8871599

C

T

exonic

De novo

nonsynonymous SNV

NM_020738

c.G4567A

p.E1523K

21.1

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

KIDINS220

PN400538

chr2:
8957755-8957755

C

T

exonic

Unknown

nonsynonymous SNV

NM_020738

c.G299A

p.R100H

23.4

Leblond2019 E

KIDINS220

AU006804

chr2:
8986095-8986095

G

C

intergenic

De novo

-

-

Yuen2017 G

KIDINS220

SP0052332

chr2:
8891738-8891738

C

T

exonic

synonymous SNV

NM_020738

c.G3048A

p.E1016E

-

-

Zhou2022 GE

KIDINS220

AU3451301

chr2:
8958965-8958965

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

KIDINS220

AU4122301

chr2:
8935296-8935296

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

KIDINS220

1-0495-003

chr2:
8873641-8873641

C

G

exonic

De novo

nonsynonymous SNV

NM_020738

c.G3986C

p.S1329T

23.4

-

Trost2022 G
Yuen2017 G
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
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