Variant Results

or

Results for "TMTC2"

Variant Events: 128

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

TMTC2

12529.p1

chr12:
83858993-83858993

T

C

intergenic

De novo

-

Turner2016 G

TMTC2

2-1252-003

chr12:
83289517-83289517

T

A

intronic

De novo

-

Yuen2017 G

TMTC2

2-1308-003

chr12:
84369549-84369549

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TMTC2

12011.p1

chr12:
84243312-84243312

C

T

intergenic

De novo

-

Turner2016 G

TMTC2

AU1635302

chr12:
83387216-83387216

C

T

intronic

De novo

-

Yuen2017 G

TMTC2

2-1210-003

chr12:
84177501-84177501

C

T

intergenic

De novo

-

Yuen2017 G

TMTC2

AU2950302

chr12:
84789177-84789177

G

C

intergenic

De novo

-

Yuen2017 G

TMTC2

1-0473-003

chr12:
85155827-85155827

G

A

intergenic

De novo

-

Yuen2017 G

TMTC2

AU4228302

chr12:
84426922-84426922

A

G

intergenic

De novo

-

Yuen2017 G

TMTC2

2-1505-003

chr12:
83710371-83710371

A

C

intergenic

De novo

-

Yuen2017 G

TMTC2

5-0040-003

chr12:
83568280-83568280

A

G

intergenic

De novo

-

Yuen2017 G

TMTC2

2-1605-004

chr12:
83898954-83898954

G

A

intergenic

De novo

-

Yuen2017 G

TMTC2

AU1725306

chr12:
83645919-83645919

G

T

intergenic

De novo

-

Yuen2017 G

TMTC2

AU4159302

chr12:
84861143-84861145

CTT

C

intergenic

De novo

-

Yuen2017 G

TMTC2

1-0395-004

chr12:
84894218-84894218

T

G

intergenic

De novo

-

Yuen2017 G

TMTC2

1-0998-003

chr12:
84650102-84650102

A

G

intergenic

De novo

-

Yuen2017 G

TMTC2

AU031004

chr12:
83686266-83686266

C

T

intergenic

De novo

-

Yuen2017 G

TMTC2

AU4314302

chr12:
84056590-84056590

A

C

intergenic

De novo

-

Yuen2017 G

TMTC2

1-0998-003

chr12:
83940540-83940540

C

T

intergenic

De novo

-

Yuen2017 G

TMTC2

1-0259-003

chr12:
83129406-83129406

G

T

intronic

De novo

-

Yuen2017 G

TMTC2

2-0300-003

chr12:
85155846-85155846

C

A

intergenic

De novo

-

Yuen2017 G

TMTC2

AU3787302

chr12:
84000868-84000868

C

T

intergenic

De novo

-

Yuen2017 G

TMTC2

1-0579-003

chr12:
84416195-84416195

C

T

intergenic

De novo

-

Yuen2017 G

TMTC2

AU063005

chr12:
83106928-83106928

G

A

intronic

De novo

-

Yuen2017 G

TMTC2

A10

chr12:
84135418-84135418

A

G

intergenic

De novo

-

Wu2018 G

TMTC2

AU3997302

chr12:
83978610-83978610

C

T

intergenic

De novo

-

Yuen2017 G

TMTC2

1-0627-007

chr12:
84219728-84219728

G

T

intergenic

De novo

-

Yuen2017 G

TMTC2

AU3905302

chr12:
83828329-83828333

GTAGC

GTAGCTAGC

intergenic

De novo

-

Yuen2017 G

TMTC2

2-1235-003

chr12:
85155519-85155519

T

C

intergenic

De novo

-

Yuen2017 G

TMTC2

2-1277-003

chr12:
84900284-84900284

C

T

intergenic

De novo

-

Yuen2017 G

TMTC2

AU4079301

chr12:
83946829-83946829

G

T

intergenic

De novo

-

Yuen2017 G

TMTC2

2-1485-004

chr12:
83638795-83638795

T

A

intergenic

De novo

-

Yuen2017 G

TMTC2

AU3782302

chr12:
85182180-85182180

T

C

intergenic

De novo

-

Yuen2017 G

TMTC2

63-343

chr12:
85184869-85184869

G

A

intergenic

De novo

-

Michaelson2012 G

TMTC2

AU4452302

chr12:
83090614-83090614

A

G

intronic

De novo

-

Yuen2017 G

TMTC2

7-0100-004

chr12:
83542294-83542294

A

G

intergenic

De novo

-

Yuen2017 G

TMTC2

1-0640-003

chr12:
83564356-83564364

TTCTTCTCT

TTCT

intergenic

De novo

-

Yuen2017 G

TMTC2

7-0100-004

chr12:
85155846-85155846

C

A

intergenic

De novo

-

Yuen2017 G

TMTC2

1-0965-003

chr12:
84410237-84410237

C

T

intergenic

De novo

-

Yuen2017 G

TMTC2

2-1645-003

chr12:
84158262-84158262

C

A

intergenic

De novo

-

Yuen2017 G

TMTC2

AU051503

chr12:
84221628-84221628

C

T

intergenic

De novo

-

Yuen2017 G

TMTC2

2-1288-003

chr12:
84837381-84837381

G

A

intergenic

De novo

-

Yuen2017 G

TMTC2

1-0160-004

chr12:
83749973-83749973

C

A

intergenic

De novo

-

Yuen2017 G

TMTC2

1-0469-003

chr12:
84222213-84222213

G

GA

intergenic

De novo

-

Yuen2017 G

TMTC2

1-0469-003

chr12:
83513352-83513352

G

A

intronic

De novo

-

Yuen2017 G

TMTC2

2-1567-004

chr12:
85155827-85155827

G

A

intergenic

De novo

-

Yuen2017 G

TMTC2

1-0495-003

chr12:
83410574-83410574

G

A

intronic

De novo

-

Yuen2017 G

TMTC2

AU2792302

chr12:
84952834-84952834

C

T

intergenic

De novo

-

Yuen2017 G

TMTC2

A5

chr12:
83122546-83122546

G

A

intronic

De novo

-

Wu2018 G

TMTC2

1-0400-003

chr12:
83381343-83381343

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

TMTC2

2-1212-003

chr12:
83263333-83263333

T

C

intronic

De novo

-

Yuen2017 G

TMTC2

2-1299-003

chr12:
83129346-83129346

G

A

intronic

De novo

-

Yuen2017 G

TMTC2

2-1456-004

chr12:
85155827-85155827

G

A

intergenic

De novo

-

Yuen2017 G

TMTC2

AU024608

chr12:
85162646-85162646

A

G

intergenic

De novo

-

Yuen2017 G

TMTC2

AU3727303

chr12:
83558637-83558637

G

T

intergenic

De novo

-

Yuen2017 G

TMTC2

2-0022-005

chr12:
83936151-83936151

T

C

intergenic

De novo

-

Yuen2017 G

TMTC2

AU3517301

chr12:
85018741-85018741

A

G

intergenic

De novo

-

Yuen2017 G

TMTC2

2-1501-003

chr12:
84408325-84408325

A

G

intergenic

De novo

-

Yuen2017 G

TMTC2

5-0073-003

chr12:
85003681-85003681

A

G

intergenic

De novo

-

Yuen2017 G

TMTC2

AU1795303

chr12:
84501611-84501611

A

C

intergenic

De novo

-

Yuen2017 G

TMTC2

2-0019-004

chr12:
84973212-84973212

A

G

intergenic

De novo

-

Yuen2017 G

TMTC2

AU3632301

chr12:
83558173-83558175

GCC

GC

intergenic

De novo

-

Yuen2017 G

TMTC2

7-0219-003

chr12:
84078131-84078131

C

A

intergenic

De novo

-

Yuen2017 G

TMTC2

AU3125301

chr12:
84268004-84268004

G

C

intergenic

De novo

-

Yuen2017 G

TMTC2

AU3713301

chr12:
84215862-84215870

GAGTATAAG

GAG

intergenic

De novo

-

Yuen2017 G

TMTC2

3-0111-000

chr12:
83707404-83707404

C

A

intergenic

De novo

-

Yuen2016 G

TMTC2

2-1399-003

chr12:
83378696-83378696

C

T

intronic

De novo

-

Yuen2017 G

TMTC2

A16

chr12:
85170107-85170110

TGAG

T

intergenic

De novo

-

Wu2018 G

TMTC2

5-0015-004

chr12:
84494936-84494936

C

T

intergenic

De novo

-

Yuen2017 G

TMTC2

AU4284301

chr12:
85205152-85205154

GCC

GC

intergenic

De novo

-

Yuen2017 G

TMTC2

AU030804

chr12:
84490378-84490378

G

A

intergenic

De novo

-

Yuen2017 G

TMTC2

1-0756-005

chr12:
83482527-83482527

A

G

intronic

De novo

-

Yuen2017 G

TMTC2

2-0278-003

chr12:
84699227-84699227

C

T

intergenic

De novo

-

Yuen2017 G

TMTC2

2-0300-004

chr12:
84327654-84327654

C

T

intergenic

De novo

-

Yuen2017 G

TMTC2

5-0116-003

chr12:
84356570-84356570

C

G

intergenic

De novo

-

Yuen2017 G

TMTC2

SP0031795

chr12:
83358848-83358848

T

C

exonic

De novo

synonymous SNV

NM_152588

c.T1644C

p.H548H

-

Fu2022 E

TMTC2

SP0000463

chr12:
83250916-83250918

CTT

C

exonic

De novo

frameshift deletion

NM_152588

c.212_213del

p.L71fs

-

Fu2022 E

TMTC2

1-0972-003

chr12:
83978968-83978968

C

T

intergenic

De novo

-

Yuen2017 G

TMTC2

1-0148-005

chr12:
84234075-84234075

C

G

intergenic

De novo

-

Yuen2017 G

TMTC2

2-1189-003

chr12:
84342177-84342177

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TMTC2

AU3721302

chr12:
83183669-83183669

T

C

intronic

De novo

-

Yuen2017 G

TMTC2

2-1738-003

chr12:
84294447-84294447

C

T

intergenic

De novo

-

Yuen2017 G

TMTC2

2-1169-003

chr12:
83244201-83244201

G

A

intronic

De novo

-

Yuen2017 G

TMTC2

100-07-107879

chr12:
83290288-83290288

G

A

exonic

De novo

nonsynonymous SNV

NM_152588

c.G1346A

p.R449Q

13.16

-

Fu2022 E
Satterstrom2020 E

TMTC2

2-0309-005

chr12:
83551200-83551200

A

G

intergenic

De novo

-

Yuen2017 G

TMTC2

AU3398301

chr12:
84946953-84946953

G

T

intergenic

De novo

-

Yuen2017 G

TMTC2

AU4079302

chr12:
83524767-83524767

G

A

intronic

De novo

-

Yuen2017 G

TMTC2

1-0344-003

chr12:
84136455-84136455

A

G

intergenic

De novo

-

Yuen2017 G

TMTC2

AU070703

chr12:
83650982-83650982

C

A

intergenic

De novo

-

Yuen2017 G

TMTC2

2-0295-003

chr12:
84368243-84368243

A

T

intergenic

De novo

-

Yuen2017 G

TMTC2

1-0882-003

chr12:
85098678-85098678

A

C

intergenic

De novo

-

Yuen2017 G

TMTC2

1-0344-003

chr12:
84934315-84934315

T

G

intergenic

De novo

-

Yuen2017 G

TMTC2

7-0253-004

chr12:
84951687-84951687

C

G

intergenic

De novo

-

Yuen2017 G

TMTC2

7-0254-004

chr12:
83608241-83608241

A

G

intergenic

De novo

-

Yuen2017 G

TMTC2

1-0389-004

chr12:
84423813-84423813

T

C

intergenic

De novo

-

Yuen2017 G

TMTC2

1-0481-003

chr12:
83118156-83118156

C

T

intronic

De novo

-

Yuen2017 G

TMTC2

1-0104-003

chr12:
85155827-85155827

G

A

intergenic

De novo

-

Yuen2017 G

TMTC2

1-0104-003

chr12:
85083009-85083020

CAAGATACAGTT

C

intergenic

De novo

-

Yuen2017 G

TMTC2

AU3730301

Complex Event; expand row to view variants

De novo

-

Yuen2017 G
Yuen2017 G

TMTC2

AU4129303

chr12:
83295195-83295195

G

T

intronic

De novo

-

Yuen2017 G

TMTC2

1-0395-003

chr12:
84894218-84894218

T

G

intergenic

De novo

-

Yuen2017 G

TMTC2

AU3905301

chr12:
84439709-84439709

G

A

intergenic

De novo

-

Yuen2017 G

TMTC2

2-1620-004

chr12:
84699796-84699798

TTG

T

intergenic

De novo

-

Yuen2017 G

TMTC2

1-0144-004

chr12:
83350589-83350589

A

G

intronic

De novo

-

Yuen2017 G

TMTC2

2-1460-003

chr12:
83224946-83224946

G

A

intronic

De novo

-

Yuen2017 G

TMTC2

1-0357-003

chr12:
83645994-83645994

A

G

intergenic

De novo

-

Yuen2017 G

TMTC2

AU076808

chr12:
83350075-83350091

AATATATATATATATAT

AATATATATATATATATAT

intronic

De novo

-

Yuen2017 G

TMTC2

A8

chr12:
84041781-84041781

G

C

intergenic

De novo

-

Wu2018 G

TMTC2

2-0070-004

chr12:
84250341-84250341

A

G

intergenic

De novo

-

Yuen2017 G

TMTC2

2-0272-004

chr12:
83810122-83810122

G

A

intergenic

De novo

-

Yuen2017 G

TMTC2

2-1485-003

chr12:
83638795-83638795

T

A

intergenic

De novo

-

Yuen2017 G

TMTC2

2-1334-003

chr12:
84658463-84658463

G

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TMTC2

AU2787302

chr12:
83535580-83535580

G

A

intergenic

De novo

-

Yuen2017 G

TMTC2

1-0044-003

chr12:
84056613-84056613

G

A

intergenic

De novo

-

Yuen2017 G

TMTC2

2-1255-003

chr12:
84624016-84624016

G

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TMTC2

2-1322-003

chr12:
83895675-83895675

G

A

intergenic

De novo

-

Yuen2017 G

TMTC2

7-0251-003

chr12:
84435757-84435757

C

T

intergenic

De novo

-

Yuen2017 G

TMTC2

2-0012-003

chr12:
83826354-83826354

G

T

intergenic

De novo

-

Yuen2017 G

TMTC2

1-0627-003

chr12:
84389699-84389699

G

A

intergenic

De novo

-

Yuen2017 G

TMTC2

2-1140-003

chr12:
84453592-84453592

C

A

intergenic

De novo

-

Yuen2017 G

TMTC2

AU4013303

chr12:
84988653-84988653

C

T

intergenic

De novo

-

Yuen2017 G

TMTC2

AU4191302

chr12:
84716955-84716955

T

C

intergenic

De novo

-

Yuen2017 G

TMTC2

AU015903

chr12:
84807996-84808011

TTCTCTCTCTCTCTCT

TTCTCTCTCTCTCT

intergenic

De novo

-

Yuen2017 G

TMTC2

AU2495301

chr12:
84540616-84540616

C

A

intergenic

De novo

-

Yuen2017 G

TMTC2

AU3881301

chr12:
83817693-83817693

G

C

intergenic

De novo

-

Yuen2017 G

TMTC2

5-0103-003

chr12:
85204151-85204151

A

T

intergenic

De novo

-

Yuen2017 G

TMTC2

AU3760301

chr12:
83962994-83962994

C

G

intergenic

De novo

-

Yuen2017 G

TMTC2

NDAR_INVVH064RG2_wes1

chr12:
83289555-83289555

T

C

intronic

De novo

-

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E

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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