Variant Results

or

Results for "UTRN"

Variant Events: 104

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

UTRN

1-0971-003

chr6:
145565511-145565513

GTT

GT

intergenic

De novo

-

Yuen2017 G

UTRN

2-0704-003

chr6:
145428487-145428487

A

C

intergenic

De novo

-

Yuen2017 G

UTRN

1-0282-003

chr6:
145128013-145128013

A

T

intronic

De novo

-

Yuen2017 G

UTRN

11002.p1

chr6:
145093200-145093200

C

T

intronic

De novo

-

Turner2016 G

UTRN

7-0023-003

chr6:
145251491-145251491

G

T

intergenic

De novo

-

Yuen2017 G

UTRN

2-1167-003

chr6:
145619186-145619186

G

A

intergenic

De novo

-

Yuen2017 G

UTRN

PN400524

chr6:
144835942-144835942

A

C

exonic

Unknown

nonsynonymous SNV

NM_007124

c.A5230C

p.I1744L

23.7

0.0013

Leblond2019 E

UTRN

MCD-001-3

chr6:
144832168-144832168

G

C

exonic

Paternal

nonsynonymous SNV

NM_007124

c.G4853C

p.S1618T

15.07

-

Tuncay2023 G

UTRN

1-0004-003

chr6:
145675892-145675892

T

G

intergenic

De novo

-

Yuen2017 G

UTRN

1-0138-003

chr6:
144840079-144840079

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

UTRN

2-1261-004

chr6:
144828187-144828187

G

GATTC

intronic

De novo

-

Trost2022 G
Yuen2017 G

UTRN

PN400412

chr6:
144835942-144835942

A

C

exonic

Unknown

nonsynonymous SNV

NM_007124

c.A5230C

p.I1744L

23.7

0.0013

Leblond2019 E

UTRN

14407_p1

chr6:
144803437-144803437

C

T

exonic

De novo

synonymous SNV

NM_007124

c.C3600T

p.G1200G

-

Fu2022 E

UTRN

SP0002284

chr6:
144747566-144747566

C

T

exonic

De novo

synonymous SNV

NM_007124

c.C549T

p.L183L

-

3.336E-5

Feliciano2019 E
Fu2022 E
Zhou2022 GE

UTRN

750_14au

chr6:
144747578-144747578

T

C

exonic

De novo

synonymous SNV

NM_007124

c.T561C

p.A187A

-

Fu2022 E

UTRN

1-0112-003

chr6:
145807552-145807552

C

CTTTTCATATAG

intergenic

De novo

-

Yuen2017 G

UTRN

1-0226-005

chr6:
144800199-144800199

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

UTRN

2-0198-003

chr6:
145254160-145254160

G

A

intergenic

De novo

-

Yuen2017 G

UTRN

A5

chr6:
144967171-144967171

A

G

intronic

De novo

-

Wu2018 G

UTRN

2-1292-003

chr6:
145385647-145385647

G

A

intergenic

De novo

-

Yuen2017 G

UTRN

1-0489-003

chr6:
145642781-145642781

T

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

UTRN

iHART2061

chr6:
144852187-144852187

G

A

splicing

Paternal

splicing

27.0

4.0E-4

Ruzzo2019 G

UTRN

AU3951301

chr6:
145426942-145426942

T

A

intergenic

De novo

-

Yuen2017 G

UTRN

7-0242-003

chr6:
145923999-145923999

A

T

intergenic

De novo

-

Yuen2017 G

UTRN

2-1508-003

chr6:
145569390-145569390

G

A

intergenic

De novo

-

Yuen2017 G

UTRN

PN400179

chr6:
144835942-144835942

A

C

exonic

Unknown

nonsynonymous SNV

NM_007124

c.A5230C

p.I1744L

23.7

0.0013

Leblond2019 E

UTRN

AU4176302

chr6:
145196673-145196673

C

T

intergenic

De novo

-

Yuen2017 G

UTRN

AU2485305

chr6:
145192567-145192567

G

A

intergenic

De novo

-

Yuen2017 G

UTRN

1-0184-003

chr6:
145898226-145898226

C

T

intergenic

De novo

-

Yuen2017 G

UTRN

PN400480

chr6:
144835942-144835942

A

C

exonic

Unknown

nonsynonymous SNV

NM_007124

c.A5230C

p.I1744L

23.7

0.0013

Leblond2019 E

UTRN

MCD-001-3

chr6:
144747588-144747588

C

G

exonic

Maternal

nonsynonymous SNV

NM_007124

c.C571G

p.R191G

16.08

1.0E-4

Tuncay2023 G

UTRN

PN400281

chr6:
144835864-144835864

C

T

exonic

Unknown

nonsynonymous SNV

NM_007124

c.C5152T

p.R1718C

18.95

2.472E-5

Leblond2019 E

UTRN

1-0435-003

chr6:
144925752-144925752

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

UTRN

2-0299-003

chr6:
145903878-145903878

T

C

intergenic

De novo

-

Yuen2017 G

UTRN

AU2793301

chr6:
145728088-145728088

A

C

intergenic

De novo

-

Yuen2017 G

UTRN

SP0117913

chr6:
145069346-145069346

C

T

intronic

De novo

-

Fu2022 E
Trost2022 G

UTRN

AU2950301

chr6:
145432108-145432108

A

G

intergenic

De novo

-

Yuen2017 G

UTRN

SP0058451

chr6:
144852422-144852422

A

C

intronic

De novo

-

Fu2022 E

UTRN

SP0004952

chr6:
145157580-145157580

A

G

exonic

De novo

nonsynonymous SNV

NM_007124

c.A9968G

p.Q3323R

19.8

-

Fu2022 E
Trost2022 G
Zhou2022 GE

UTRN

AU3517302

chr6:
145500454-145500454

C

G

intergenic

De novo

-

Yuen2017 G

UTRN

AU2299301

chr6:
144618243-144618243

G

A

intronic

De novo

-

Trost2022 G

UTRN

Cukier2014:3836

chr6:
144811319-144811319

A

G

exonic

Unknown

nonsynonymous SNV

NM_007124

c.A4247G

p.Q1416R

14.44

0.0076

Cukier2014 E

UTRN

MSSNG00331-003

chr6:
144640295-144640295

A

T

intronic

De novo

-

Trost2022 G

UTRN

2-0088-003

chr6:
144995237-144995237

T

TAACC

intronic

De novo

-

Trost2022 G
Yuen2017 G

UTRN

Cukier2014:7936

chr6:
144854342-144854342

G

A

exonic

Unknown

nonsynonymous SNV

NM_007124

c.G6179A

p.G2060D

14.1

0.0091

Cukier2014 E

UTRN

7-0078-003

chr6:
145665796-145665796

A

G

intergenic

De novo

-

Yuen2017 G

UTRN

5-0076-003

chr6:
144785745-144785745

T

C

intronic

De novo

-

Trost2022 G

UTRN

14407.p1

chr6:
144803437-144803437

C

T

exonic

De novo

synonymous SNV

NM_007124

c.C3600T

p.G1200G

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

UTRN

1-0750-003

chr6:
144812520-144812520

G

T

intronic

De novo

-

Trost2022 G

UTRN

11028.p1

chr6:
144852170-144852170

T

G

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G

UTRN

SP0198497

chr6:
144750707-144750707

C

A

intronic

De novo

-

Trost2022 G

UTRN

11040.p1

chr6:
145079042-145079042

A

G

intronic

De novo

-

4.963E-5

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

UTRN

1-1167-003

chr6:
144758068-144758068

A

ATG

intronic

De novo

-

Trost2022 G

UTRN

7-0371-003

chr6:
144652879-144652879

T

C

intronic

De novo

-

Trost2022 G

UTRN

AU4129303

chr6:
145411376-145411376

T

C

intergenic

De novo

-

Yuen2017 G

UTRN

AU2303301

chr6:
144658749-144658755

GTTATTA

G

intronic

De novo

-

Trost2022 G

UTRN

1-1175-003

chr6:
144650350-144650350

C

G

intronic

De novo

-

Trost2022 G

UTRN

2-0132-004

chr6:
145389287-145389287

C

T

intergenic

De novo

-

Yuen2017 G

UTRN

7-0277-003

chr6:
144650460-144650460

G

A

intronic

De novo

-

Trost2022 G

UTRN

MSSNG00045-005

chr6:
144908402-144908403

TG

T

intronic

De novo

-

Trost2022 G

UTRN

4-0062-003

chr6:
144943037-144943038

AC

GT

intronic

De novo

-

Trost2022 G

UTRN

09C81124

chr6:
144811185-144811185

C

A

intronic

De novo

-

Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

UTRN

2-0285-003

chr6:
145031734-145031734

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

UTRN

MSSNG00412-003

chr6:
144893292-144893292

C

T

intronic

De novo

-

Trost2022 G

UTRN

MSSNG00359-004

chr6:
144897096-144897096

T

A

intronic

De novo

-

Trost2022 G

UTRN

REACH000120

chr6:
144865200-144865200

A

G

intronic

De novo

-

Trost2022 G

UTRN

7-0095-003

chr6:
144812121-144812121

C

T

exonic

De novo

synonymous SNV

NM_007124

c.C4320T

p.F1440F

-

1.659E-5

Trost2022 G
Yuen2017 G
Zhou2022 GE

UTRN

2-1261-004

chr6:
144892878-144892878

A

T

intronic

De novo

-

Trost2022 G

UTRN

3-0485-000A

chr6:
144848463-144848463

A

G

intronic

De novo

-

Trost2022 G

UTRN

7-0298-004

chr6:
144857136-144857136

G

A

intronic

De novo

-

Trost2022 G

UTRN

68504

chr6:
145079042-145079042

A

G

intronic

De novo

-

4.963E-5

Trost2022 G

UTRN

1-0112-004

chr6:
145807552-145807552

C

CTTTTCATATAG

intergenic

De novo

-

Yuen2017 G

UTRN

AU2458302

chr6:
145127699-145127699

T

C

intronic

De novo

-

Trost2022 G

UTRN

REACH000627

chr6:
145061841-145061841

C

T

intronic

De novo

-

Trost2022 G

UTRN

REACH000145

chr6:
145074646-145074646

T

C

intronic

De novo

-

Trost2022 G

UTRN

1-0150-003

chr6:
145128013-145128013

A

T

intronic

De novo

-

Yuen2017 G

UTRN

3-0708-000

chr6:
144961955-144961955

A

AT

intronic

De novo

-

Trost2022 G

UTRN

5-5227-003

chr6:
144977536-144977536

C

CT

intronic

De novo

-

Trost2022 G

UTRN

AU2562301

chr6:
144960936-144960936

G

A

intronic

De novo

-

Trost2022 G

UTRN

REACH000246

chr6:
144961429-144961429

T

G

intronic

De novo

-

Trost2022 G

UTRN

SJD_44.3

chr6:
145152789-145152789

A

G

intronic

De novo

-

Trost2022 G

UTRN

REACH000446

chr6:
145140632-145140632

A

T

intronic

De novo

-

Trost2022 G

UTRN

2-1749-003

chr6:
145150309-145150309

T

A

intronic

De novo

-

Trost2022 G

UTRN

1-0044-003

chr6:
145918321-145918321

C

T

intergenic

De novo

-

Yuen2017 G

UTRN

5-0026-003

chr6:
145020952-145020952

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

UTRN

5-0026-003

chr6:
145662570-145662570

A

T

intergenic

De novo

-

Yuen2017 G

UTRN

2-1456-003

chr6:
144898269-144898269

T

A

exonic

De novo

nonsynonymous SNV

NM_007124

c.T7324A

p.W2442R

5.983

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

UTRN

1-0546-003

chr6:
145851191-145851191

T

G

intergenic

De novo

-

Yuen2017 G

UTRN

SP0055091

Complex Event; expand row to view variants

De novo

nonsynonymous SNV, frameshift insertion, frameshift substitution

NM_007124
NM_007124
NM_007124

c.583_584insC
c.A584T
c.584_584delinsCT

p.D195fs
p.D195V
N/A

19.33

-

Trost2022 G
Trost2022 G
Zhou2022 GE

UTRN

AU075803

chr6:
145705403-145705403

C

T

intergenic

De novo

-

Yuen2017 G

UTRN

1-0885-003

chr6:
145112624-145112624

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

UTRN

1-0025-004

chr6:
144977393-144977393

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

UTRN

2-0045-003

chr6:
145396424-145396424

G

A

intergenic

De novo

-

Yuen2017 G

UTRN

1-0051-005

chr6:
145338174-145338174

G

C

intergenic

De novo

-

Yuen2017 G

UTRN

3980_16mr

chr6:
144745153-144745153

T

C

exonic

De novo

nonsynonymous SNV

NM_007124

c.T344C

p.I115T

22.3

-

Fu2022 E

UTRN

mAGRE4228

chr6:
144852187-144852187

G

A

splicing

Paternal

splicing

27.0

4.0E-4

Cirnigliaro2023 G

UTRN

1-0219-003

chr6:
145522125-145522125

C

T

intergenic

De novo

-

Yuen2017 G

UTRN

2-1261-003

chr6:
144828187-144828187

G

GATTC

intronic

De novo

-

Yuen2017 G

UTRN

GM181795

chr6:
144904785-144904785

T

A

intronic

De novo

-

Fu2022 E

UTRN

mAGRE2061

chr6:
144852187-144852187

G

A

splicing

Paternal

splicing

27.0

4.0E-4

Cirnigliaro2023 G

UTRN

mAGRE6047

chr6:
144780438-144780440

CTA

C

exonic

Maternal

frameshift deletion

NM_007124

c.2656_2657del

p.Y886fs

-

8.271E-6

Cirnigliaro2023 G

UTRN

2-1280-003

chr6:
145474571-145474585

CATATATATATATAT

CATATATATATAT

intergenic

De novo

-

Yuen2017 G

UTRN

09C89011

chr6:
144747566-144747566

C

T

exonic

De novo

synonymous SNV

NM_007124

c.C549T

p.L183L

-

3.336E-5

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

UTRN

1-0092-004

chr6:
145858751-145858751

A

G

intergenic

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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