Variant Results

or

Results for "TMEM182"

Variant Events: 90

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

TMEM182

2-1561-003

chr2:
104341756-104341756

G

T

intergenic

De novo

-

Yuen2017 G

TMEM182

AU4072303

chr2:
104577747-104577747

G

A

intergenic

De novo

-

Yuen2017 G

TMEM182

2-1345-003

chr2:
104291290-104291290

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TMEM182

2-1567-004

chr2:
104906801-104906801

G

A

intergenic

De novo

-

Yuen2017 G

TMEM182

2-1509-003

chr2:
103586349-103586349

A

G

intergenic

De novo

-

Yuen2017 G

TMEM182

AU1355301

chr2:
103586613-103586614

CA

CAA

intergenic

De novo

-

Yuen2017 G

TMEM182

2-1456-004

chr2:
103561597-103561601

CTCTT

C

intergenic

De novo

-

Yuen2017 G

TMEM182

5-0014-003

chr2:
103778378-103778378

C

T

intergenic

De novo

-

Yuen2017 G

TMEM182

1-0745-003

chr2:
104504604-104504604

C

T

intergenic

De novo

-

Yuen2017 G

TMEM182

2-1146-003

chr2:
104920987-104920987

C

T

intergenic

De novo

-

Yuen2017 G

TMEM182

AU4054302

chr2:
103674583-103674583

T

C

intergenic

De novo

-

Yuen2017 G

TMEM182

3-0246-000

chr2:
104841683-104841683

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TMEM182

2-0182-003

chr2:
104202327-104202327

G

GAA

intergenic

De novo

-

Yuen2017 G

TMEM182

2-1302-003

chr2:
104908725-104908725

T

C

intergenic

De novo

-

Yuen2017 G

TMEM182

AU1764301

chr2:
103725914-103725914

T

C

intergenic

De novo

-

Yuen2017 G

TMEM182

2-1315-003

chr2:
104105675-104105675

C

T

intergenic

De novo

-

Yuen2017 G

TMEM182

7-0197-003

chr2:
104311014-104311014

G

T

intergenic

De novo

-

Yuen2017 G

TMEM182

AU4235301

chr2:
104621294-104621294

G

A

intergenic

De novo

-

Yuen2017 G

TMEM182

1-0022-003

chr2:
103713476-103713476

G

A

intergenic

De novo

-

Yuen2016 G

TMEM182

1-0285-004

chr2:
104246099-104246099

C

T

intergenic

De novo

-

Yuen2017 G

TMEM182

1-0144-004

chr2:
103833313-103833313

G

GACTT

intergenic

De novo

-

Yuen2017 G

TMEM182

AU4029302

chr2:
104409669-104409676

TGTATTAG

TGTATTAGGTATTAG

intergenic

De novo

-

Yuen2017 G

TMEM182

1-0255-003

chr2:
104575639-104575639

G

A

intergenic

De novo

-

Yuen2017 G

TMEM182

1-0299-004

chr2:
104798201-104798201

T

C

intergenic

De novo

-

Yuen2017 G

TMEM182

AU4032307

chr2:
104714003-104714003

C

T

intergenic

De novo

-

Yuen2017 G

TMEM182

AU4235301

chr2:
103504438-103504438

G

A

intergenic

De novo

-

Yuen2017 G

TMEM182

2-1398-003

chr2:
104219006-104219006

C

A

intergenic

De novo

-

Yuen2017 G

TMEM182

2-1398-003

chr2:
103603250-103603250

G

A

intergenic

De novo

-

Yuen2017 G

TMEM182

1-0261-003

chr2:
104955820-104955820

G

C

intergenic

De novo

-

Yuen2017 G

TMEM182

1-0382-003

chr2:
103978693-103978693

A

ATT

intergenic

De novo

-

Yuen2017 G

TMEM182

2-1265-003

chr2:
103501822-103501822

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TMEM182

5-0131-003

chr2:
104955225-104955225

C

T

intergenic

De novo

-

Yuen2017 G

TMEM182

2-1261-004

chr2:
104221143-104221143

G

A

intergenic

De novo

-

Yuen2017 G

TMEM182

2-1335-004

chr2:
104425099-104425099

G

A

intergenic

De novo

-

Yuen2017 G

TMEM182

7-0141-003

chr2:
104433416-104433416

G

A

intergenic

De novo

-

Yuen2017 G

TMEM182

SP0145674

chr2:
103380816-103380816

A

T

exonic

De novo

synonymous SNV

NM_144632

c.A261T

p.T87T

-

Fu2022 E

TMEM182

2-0214-004

chr2:
104895388-104895388

C

A

intergenic

De novo

-

Yuen2017 G

TMEM182

2-1475-003

chr2:
104010188-104010189

GA

G

intergenic

De novo

-

Yuen2017 G

TMEM182

2-0142-003

chr2:
104339595-104339595

G

GA

intergenic

De novo

-

Yuen2017 G

TMEM182

AU2140306

chr2:
103874082-103874082

C

T

intergenic

De novo

-

Yuen2017 G

TMEM182

AU2123301

chr2:
104005947-104005947

G

C

intergenic

De novo

-

Yuen2017 G

TMEM182

AU3794301

chr2:
104233791-104233791

A

G

intergenic

De novo

-

Yuen2017 G

TMEM182

AU1725306

chr2:
104518457-104518457

C

A

intergenic

De novo

-

Yuen2017 G

TMEM182

AU3866301

chr2:
104531024-104531024

G

T

intergenic

De novo

-

Yuen2017 G

TMEM182

1-0226-005

chr2:
104095501-104095501

G

A

intergenic

De novo

-

Yuen2017 G

TMEM182

AU076705

chr2:
103732770-103732770

C

T

intergenic

De novo

-

Yuen2017 G

TMEM182

2-1397-003

chr2:
104456164-104456164

G

A

intergenic

De novo

-

Yuen2017 G

TMEM182

AU4089301

chr2:
103741901-103741901

T

A

intergenic

De novo

-

Yuen2017 G

TMEM182

2-1456-003

chr2:
103561597-103561601

CTCTT

C

intergenic

De novo

-

Yuen2017 G

TMEM182

AU054303

chr2:
104864256-104864256

A

G

intergenic

De novo

-

Yuen2017 G

TMEM182

2-1386-003

chr2:
104167302-104167302

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TMEM182

2-1407-003

chr2:
104574333-104574333

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TMEM182

5-0071-003

chr2:
104828142-104828142

A

C

intergenic

De novo

-

Yuen2017 G

TMEM182

AU048206

chr2:
104665451-104665451

T

G

intergenic

De novo

-

Yuen2017 G

TMEM182

1-0486-003

chr2:
103384047-103384047

C

T

intronic

De novo

-

Yuen2017 G

TMEM182

iHART3149

chr2:
103414355-103414356

TG

T

exonic

Paternal

frameshift deletion

NM_144632

c.366delG

p.L122fs

-

Ruzzo2019 G

TMEM182

AU3787303

chr2:
103925022-103925022

G

A

intergenic

De novo

-

Yuen2017 G

TMEM182

2-0057-004

chr2:
103392906-103392906

C

T

intronic

De novo

-

Yuen2017 G

TMEM182

AU0636303

chr2:
103417048-103417048

T

G

intronic

De novo

-

Yuen2017 G

TMEM182

1-0022-004

chr2:
103713476-103713476

G

A

intergenic

De novo

-

Yuen2017 G

TMEM182

AU031404

chr2:
103537430-103537434

CAAAA

CAA

intergenic

De novo

-

Yuen2017 G

TMEM182

1-0627-005

chr2:
104687210-104687210

A

T

intergenic

De novo

-

Yuen2017 G

TMEM182

1-0559-005

chr2:
103478470-103478470

G

A

intergenic

De novo

-

Yuen2017 G

TMEM182

AU3765302

chr2:
104151736-104151736

T

C

intergenic

De novo

-

Yuen2017 G

TMEM182

3-0134-000

chr2:
103649392-103649392

A

G

intergenic

De novo

-

Yuen2017 G

TMEM182

1-0232-004

chr2:
104875602-104875602

C

T

intergenic

De novo

-

Yuen2017 G

TMEM182

AU4092302

chr2:
104048632-104048632

C

G

intergenic

De novo

-

Yuen2017 G

TMEM182

AU3263302

chr2:
104115146-104115146

G

A

intergenic

De novo

-

Yuen2017 G

TMEM182

1-0144-005

chr2:
103833313-103833313

G

GACTT

intergenic

De novo

-

Yuen2017 G

TMEM182

5-0128-003

chr2:
103692970-103692970

T

G

intergenic

De novo

-

Yuen2017 G

TMEM182

2-1291-003

chr2:
103685578-103685578

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TMEM182

AU3716301

chr2:
104322519-104322519

G

A

intergenic

De novo

-

Yuen2017 G

TMEM182

AU3937301

chr2:
103739740-103739740

G

A

intergenic

De novo

-

Yuen2017 G

TMEM182

60-2027

chr2:
103451691-103451691

C

T

intergenic

De novo

-

Michaelson2012 G

TMEM182

AU3885304

chr2:
103933330-103933330

G

A

intergenic

De novo

-

Yuen2017 G

TMEM182

1-0835-003

chr2:
104552051-104552054

CTGT

CT

intergenic

De novo

-

Yuen2017 G

TMEM182

2-1277-003

chr2:
104202372-104202372

A

AGG

intergenic

De novo

-

Yuen2017 G

TMEM182

AU017703

chr2:
104248342-104248342

G

A

intergenic

De novo

-

Yuen2017 G

TMEM182

2-1626-003

chr2:
103927577-103927578

TA

TAA

intergenic

De novo

-

Yuen2017 G

TMEM182

1-0439-003

chr2:
103977467-103977483

TACACACACACACACAC

TACACACACACACAC

intergenic

De novo

-

Yuen2017 G

TMEM182

7-0100-004

chr2:
104822217-104822217

T

C

intergenic

De novo

-

Yuen2017 G

TMEM182

2-0129-004

chr2:
104966179-104966197

AATAGAACAAATTCTTGAT

A

intergenic

De novo

-

Yuen2017 G

TMEM182

1-0271-004

chr2:
104771647-104771647

A

G

intergenic

De novo

-

Yuen2017 G

TMEM182

5-0003-004

chr2:
104935956-104935956

G

A

intergenic

De novo

-

Yuen2017 G

TMEM182

5-0133-003

chr2:
104104052-104104052

G

T

intergenic

De novo

-

Yuen2017 G

TMEM182

AU046706

chr2:
103629389-103629389

C

T

intergenic

De novo

-

Yuen2017 G

TMEM182

2-0022-003

chr2:
104141075-104141075

A

G

intergenic

De novo

-

Yuen2017 G

TMEM182

AU011903

chr2:
103976895-103976895

G

C

intergenic

De novo

-

Yuen2017 G

TMEM182

2-1452-003

chr2:
104663632-104663632

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TMEM182

1-0683-004

chr2:
104616254-104616254

G

A

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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