Variant Results

or

Results for "ATR"

Variant Events: 31

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

ATR

SSC05199

chr3:
142185303-142185303

T

C

exonic

Mosaic

nonsynonymous SNV

NM_001184

c.A6760G

p.T2254A

14.61

-

Lim2017 E

ATR

2-1690-003

chr3:
142239171-142239171

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ATR

949_15au

chr3:
142185266-142185266

A

G

exonic

De novo

nonsynonymous SNV

NM_001184

c.T6797C

p.M2266T

16.73

-

Fu2022 E

ATR

12611.p1

chr3:
142185303-142185303

T

C

exonic

Mosaic, De novo

nonsynonymous SNV

NM_001184

c.A6760G

p.T2254A

14.61

-

Dou2017 E
Ji2016 E
Krumm2015 E
Krupp2017 E

ATR

Li2017:16223

chr3:
142261554-142261555

TA

T

exonic

Unknown

frameshift deletion

NM_001184

c.3402delT

p.F1134fs

-

Li2017 T

ATR

SP0113349

chr3:
142232468-142232468

G

T

exonic

De novo

nonsynonymous SNV

NM_001184

c.C4516A

p.L1506I

14.5

-

Fu2022 E

ATR

A19

chr3:
142203846-142203846

T

C

intronic

De novo

-

Wu2018 G

ATR

SP0006684

chr3:
142172037-142172037

C

T

exonic

De novo

stopgain

NM_001184

c.G7694A

p.W2565X

26.9

-

Fu2022 E
Zhou2022 GE

ATR

SP0062312

chr3:
142279152-142279152

T

C

exonic

De novo

synonymous SNV

NM_001184

c.A1494G

p.Q498Q

-

8.237E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

ATR

SP0078245

chr3:
142170590-142170590

T

TA

intronic

De novo

-

Trost2022 G

ATR

SP0125137

chr3:
142170590-142170590

T

TA

intronic

De novo

-

Trost2022 G

ATR

SP0024332

chr3:
142170590-142170590

T

TA

intronic

De novo

-

Trost2022 G

ATR

SP0060524

chr3:
142170590-142170590

T

TA

intronic

De novo

-

Trost2022 G

ATR

mAGRE1717

chr3:
142168383-142168383

C

CT

exonic

Paternal

frameshift insertion

NM_001184

c.7822dupA

p.R2608fs

-

Cirnigliaro2023 G

ATR

Li2017:18347

chr3:
142285059-142285059

C

T

exonic

Unknown

nonsynonymous SNV

NM_001184

c.G196A

p.V66M

21.5

3.295E-5

Li2017 T

ATR

MSSNG00003-004

chr3:
142245309-142245309

A

G

intronic

De novo

-

Trost2022 G

ATR

AU0786305

chr3:
142312430-142312430

C

T

intergenic

De novo

-

Yuen2017 G

ATR

SP0142751

chr3:
142185204-142185204

G

T

exonic

De novo

nonsynonymous SNV

NM_001184

c.C6859A

p.P2287T

24.5

-

Trost2022 G

ATR

AU059903

chr3:
142195803-142195803

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ATR

MSSNG00003-004

chr3:
142196493-142196493

A

C

intronic

De novo

-

Trost2022 G

ATR

iHART1717

chr3:
142168383-142168383

C

CT

exonic

Paternal

frameshift insertion

NM_001184

c.7822dupA

p.R2608fs

-

Ruzzo2019 G

ATR

SP0105586

chr3:
142170599-142170600

AC

A

intronic

De novo

-

Trost2022 G

ATR

5-0012-003

chr3:
142176059-142176059

T

A

intronic

De novo

-

Trost2022 G

ATR

SP0003327

chr3:
142180721-142180721

T

C

intronic

De novo

-

Fu2022 E

ATR

Li2017:19708

chr3:
142188964-142188964

G

T

exonic

Unknown

nonsynonymous SNV

NM_001184

c.C6283A

p.L2095I

23.3

-

Li2017 T

ATR

2-1223-003

chr3:
142176850-142176850

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ATR

1-0567-004

chr3:
142246157-142246157

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ATR

Wang2023:534

chr3:
142215952-142215952

G

C

exonic

De novo

nonsynonymous SNV

NM_001184

c.C5641G

p.L1881V

22.2

-

Wang2023 E

ATR

Cukier2014:17545

chr3:
142281298-142281298

C

T

exonic

Unknown

nonsynonymous SNV

NM_001184

c.G946A

p.V316I

13.52

0.0189

Cukier2014 E

ATR

SP0042791

chr3:
142278207-142278207

A

C

exonic

De novo

nonsynonymous SNV

NM_001184

c.T1618G

p.Y540D

17.4

-

Trost2022 G
Zhou2022 GE

ATR

AU3052303

chr3:
142253988-142253988

T

C

exonic

De novo

synonymous SNV

NM_001184

c.A3879G

p.Q1293Q

-

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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