Variant Results

or

Results for "ATRNL1"

Variant Events: 37

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

ATRNL1

3-0140-000

chr10:
117309324-117309324

G

T

intronic

De novo

-

Yuen2017 G

ATRNL1

A22

chr10:
117055181-117055181

A

G

intronic

De novo

-

Wu2018 G

ATRNL1

20574-32342

chr10:
116931097-116931101

TTCTC

T

exonic

frameshift deletion

NM_001276282

c.1396_1399del

p.S466fs

-

Callaghan2019 G

ATRNL1

12656.p1

chr10:
117061544-117061544

A

C

exonic

De novo

nonsynonymous SNV

NM_207303

c.A2809C

p.T937P

18.0

4.0E-4

Satterstrom2020 E

ATRNL1

2-1005-003

chr10:
117522057-117522057

C

A

intronic

De novo

-

Yuen2017 G

ATRNL1

SP0070866

chr10:
117001562-117001562

C

T

intronic

De novo

-

Fu2022 E

ATRNL1

1-0197-003

chr10:
117353902-117353902

T

G

intronic

De novo

-

Yuen2017 G

ATRNL1

A2

chr10:
117226023-117226023

A

G

intronic

De novo

-

Wu2018 G

ATRNL1

AU2410302

chr10:
117107978-117107978

G

C

intronic

De novo

-

Yuen2017 G

ATRNL1

1-0585-003

chr10:
117775022-117775022

G

A

intergenic

De novo

-

Yuen2017 G

ATRNL1

2-0208-003

chr10:
117322102-117322102

T

C

intronic

De novo

-

Yuen2017 G

ATRNL1

5H389

chr10:
117607490-117607490

C

G

exonic

De novo

nonsynonymous SNV

NM_207303

c.C4006G

p.P1336A

16.5

2.643E-5

Fu2022 E

ATRNL1

1-0661-003

chr10:
117341771-117341771

G

A

intronic

De novo

-

Yuen2017 G

ATRNL1

13515.p1

chr10:
117708469-117708469

T

A

UTR3

De novo

-

Turner2016 G

ATRNL1

AU070703

chr10:
117806327-117806327

T

G

intergenic

De novo

-

Yuen2017 G

ATRNL1

iHART1821

chr10:
117486851-117486851

C

T

exonic

Paternal

stopgain

NM_207303

c.C3889T

p.R1297X

37.0

-

Ruzzo2019 G

ATRNL1

2-0003-003

chr10:
117586800-117586800

A

G

intronic

De novo

-

Yuen2017 G

ATRNL1

AU058105

chr10:
117326641-117326641

A

G

intronic

De novo

-

Yuen2017 G

ATRNL1

AU1894303

chr10:
117696551-117696551

C

T

intronic

De novo

-

Yuen2017 G

ATRNL1

G01-GEA-285-HI

chr10:
117059688-117059688

G

A

exonic

De novo

nonsynonymous SNV

NM_207303

c.G2560A

p.A854T

9.691

-

Fu2022 E
Satterstrom2020 E

ATRNL1

1-0757-003

chr10:
117053259-117053265

GTTTTTT

GTTTTTTT

intronic

De novo

-

Yuen2017 G

ATRNL1

2-1384-003

chr10:
116946458-116946458

T

G

intronic

De novo

-

Yuen2017 G

ATRNL1

1-0196-005

chr10:
117466876-117466879

TCCC

TCC

intronic

De novo

-

Yuen2017 G

ATRNL1

AU045514

chr10:
117338784-117338784

T

C

intronic

De novo

-

Yuen2017 G

ATRNL1

1-0381-003

chr10:
117332352-117332352

G

A

intronic

De novo

-

Yuen2017 G

ATRNL1

1-0299-003

chr10:
117182797-117182797

A

T

intronic

De novo

-

Yuen2017 G

ATRNL1

AU3809302

chr10:
117556288-117556288

G

A

intronic

De novo

-

Yuen2017 G

ATRNL1

AU3728301

chr10:
117636241-117636241

A

G

intronic

De novo

-

Yuen2017 G

ATRNL1

7-0095-004

chr10:
117754101-117754101

G

T

intergenic

De novo

-

Yuen2017 G

ATRNL1

1-0303-004

chr10:
116879630-116879630

A

G

intronic

De novo

-

Yuen2017 G

ATRNL1

DEASD_0436_001

chr10:
117221405-117221406

GT

G

intronic

De novo

-

Kosmicki2017 E
Satterstrom2020 E

ATRNL1

AU015903

chr10:
117365326-117365350

AAATAATAATAATAATAATAATAAT

AAATAATAATAATAATAATAAT

intronic

De novo

-

Yuen2017 G

ATRNL1

AU1725306

chr10:
117094958-117094958

A

G

intronic

De novo

-

Yuen2017 G

ATRNL1

1-0551-004

chr10:
117281490-117281490

C

T

intronic

De novo

-

Yuen2017 G

ATRNL1

2-0296-004

chr10:
117184669-117184669

T

C

intronic

De novo

-

Yuen2017 G

ATRNL1

A19

chr10:
117586034-117586034

C

T

intronic

De novo

-

Wu2018 G

ATRNL1

AU2427303

chr10:
117028524-117028524

A

G

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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