Variant Results

or

Results for "MECOM"

Variant Events: 38

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

MECOM

AU2089301

chr3:
169352929-169352929

C

T

intronic

De novo

-

Yuen2017 G

MECOM

AU1795302

chr3:
168804263-168804263

T

A

intronic

De novo

-

Yuen2017 G

MECOM

1-0277-003

chr3:
168875649-168875649

A

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

MECOM

7-0219-003

chr3:
169199053-169199053

T

G

intronic

De novo

-

Yuen2017 G

MECOM

2-1502-003

chr3:
168901163-168901163

T

C

intronic

De novo

-

Yuen2017 G

MECOM

AU046904

chr3:
168974513-168974513

G

A

intronic

De novo

-

Yuen2017 G

MECOM

09C86141

chr3:
168819995-168819995

A

G

exonic

De novo

nonsynonymous SNV

NM_001163999
NM_001164000
NM_001105078
NM_001205194
NM_005241
NM_001105077
NM_004991

c.T2036C
c.T2033C
c.T2060C
c.T2060C
c.T2060C
c.T2255C
c.T2624C

p.M679T
p.M678T
p.M687T
p.M687T
p.M687T
p.M752T
p.M875T

17.25

-

DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

MECOM

AU4150301

chr3:
169272630-169272631

TA

T

intronic

De novo

-

Yuen2017 G

MECOM

08C78450

chr3:
168838891-168838891

C

T

exonic

De novo

nonsynonymous SNV

NM_001105078
NM_001163999
NM_001164000
NM_001205194
NM_005241
NM_001105077
NM_004991

c.G521A
c.G524A
c.G521A
c.G521A
c.G521A
c.G716A
c.G1085A

p.G174D
p.G175D
p.G174D
p.G174D
p.G174D
p.G239D
p.G362D

22.5

-

DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

MECOM

AU4308302

chr3:
169302167-169302167

C

A

intronic

De novo

-

Yuen2017 G

MECOM

1-0715-003

chr3:
169253908-169253908

T

C

intronic

De novo

-

Yuen2017 G

MECOM

1-0292-005

chr3:
169080781-169080781

G

T

intronic

De novo

-

Yuen2017 G

MECOM

2-0098-003

chr3:
169357855-169357855

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

MECOM

1-0201-005

chr3:
169189573-169189573

T

G

intronic

De novo

-

Yuen2017 G

MECOM

1-0155-003

chr3:
169382291-169382291

G

A

upstream

De novo

-

Yuen2017 G

MECOM

AU009805

chr3:
168958830-168958830

T

G

intronic

De novo

-

Yuen2017 G

MECOM

1-0417-003

chr3:
168920467-168920467

C

T

intronic

De novo

-

Yuen2017 G

MECOM

13948.p1

chr3:
169421321-169421321

G

C

intergenic

De novo

-

Werling2018 G

MECOM

AU4487302

chr3:
168895853-168895853

C

T

intronic

De novo

-

Yuen2017 G

MECOM

2-0013-003

chr3:
168933045-168933045

T

TA

intronic

De novo

-

Yuen2017 G

MECOM

7-0119-003

chr3:
168989188-168989188

G

A

intronic

De novo

-

Yuen2017 G

MECOM

AU054304

chr3:
169026010-169026010

A

G

intronic

De novo

-

Yuen2017 G

MECOM

AU2756306

chr3:
169082583-169082583

T

C

intronic

De novo

-

Yuen2017 G

MECOM

5-0017-003

chr3:
169137637-169137637

A

C

intronic

De novo

-

Yuen2017 G

MECOM

12529.p1

chr3:
169359500-169359500

G

A

intronic

De novo

-

Turner2016 G

MECOM

AU024105

chr3:
169121676-169121676

A

G

intronic

De novo

-

Yuen2017 G

MECOM

1-0585-003

chr3:
168813091-168813098

CTAGTTAG

CTAG

intronic

De novo

-

Yuen2017 G

MECOM

AU4410302

chr3:
169405226-169405247

CTGTTTGTTTGTTTGTTTGTTT

CTGTTTGTTTGTTTGTTTGTTTGTTT

intergenic

De novo

-

Yuen2017 G

MECOM

2-1501-003

chr3:
169201748-169201751

ATTC

ATTCCATCTTC

intronic

De novo

-

Yuen2017 G

MECOM

7-0249-003

chr3:
169344271-169344286

CCTCTCTCTCTCTCTC

CCTCTCTCTCTCTC

intronic

De novo

-

Yuen2017 G

MECOM

AU3874301

chr3:
169201748-169201751

ATTC

ATTCCATCTTC

intronic

De novo

-

Yuen2017 G

MECOM

2-1170-003

chr3:
169458687-169458687

G

A

intergenic

De novo

-

Yuen2017 G

MECOM

2-1562-004

chr3:
169022622-169022622

G

GACAAAACATGCCTAA

intronic

De novo

-

Yuen2017 G

MECOM

AU2410302

chr3:
168808970-168808973

ATTT

ATT

intronic

De novo

-

Yuen2017 G

MECOM

2-1461-003

chr3:
169443225-169443225

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MECOM

13403.p1

chr3:
169025065-169025065

C

T

intronic

De novo

-

Werling2018 G

MECOM

1-0559-004

chr3:
168805691-168805691

A

C

intronic

De novo

-

Yuen2017 G

MECOM

AU053503

chr3:
169131032-169131032

C

T

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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