Variant Results

or

Results for "MED15"

Variant Events: 18

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

MED15

PN400367

chr22:
20937201-20937201

C

T

exonic

Unknown

nonsynonymous SNV

NM_001293236
NM_001293234
NM_001293235
NM_001293237
NM_015889
NM_001003891

c.C1151T
c.C1313T
c.C1286T
c.C1286T
c.C1364T
c.C1484T

p.A384V
p.A438V
p.A429V
p.A429V
p.A455V
p.A495V

20.9

0.002

Leblond2019 E

MED15

AU062204

chr22:
21010243-21010243

T

C

intergenic

De novo

-

Yuen2017 G

MED15

AU062204

chr22:
21010247-21010247

T

G

intergenic

De novo

-

Yuen2017 G

MED15

1-0032-003

chr22:
20934948-20934948

G

A

intronic

De novo

-

Yuen2017 G

MED15

2-1086-003

chr22:
20987602-20987602

C

T

intergenic

De novo

-

Yuen2017 G

MED15

AU3809302

chr22:
21018183-21018183

G

A

intergenic

De novo

-

Yuen2017 G

MED15

PN400528

chr22:
20937201-20937201

C

T

exonic

Unknown

nonsynonymous SNV

NM_001293236
NM_001293234
NM_001293235
NM_001293237
NM_015889
NM_001003891

c.C1151T
c.C1313T
c.C1286T
c.C1286T
c.C1364T
c.C1484T

p.A384V
p.A438V
p.A429V
p.A429V
p.A455V
p.A495V

20.9

0.002

Leblond2019 E

MED15

AU2162302

chr22:
20986073-20986073

G

A

intergenic

De novo

-

Yuen2017 G

MED15

7-0223-003

chr22:
21027859-21027859

A

T

intergenic

De novo

-

Yuen2017 G

MED15

1-0414-005

chr22:
20864628-20864628

G

A

intronic

De novo

-

Yuen2017 G

MED15

1-0627-007

chr22:
20881473-20881475

TCC

TC

intronic

De novo

-

Yuen2017 G

MED15

PN400557

chr22:
20937201-20937201

C

T

exonic

Unknown

nonsynonymous SNV

NM_001293236
NM_001293234
NM_001293235
NM_001293237
NM_015889
NM_001003891

c.C1151T
c.C1313T
c.C1286T
c.C1286T
c.C1364T
c.C1484T

p.A384V
p.A438V
p.A429V
p.A429V
p.A455V
p.A495V

20.9

0.002

Leblond2019 E

MED15

PN400249

chr22:
20937201-20937201

C

T

exonic

Unknown

nonsynonymous SNV

NM_001293236
NM_001293234
NM_001293235
NM_001293237
NM_015889
NM_001003891

c.C1151T
c.C1313T
c.C1286T
c.C1286T
c.C1364T
c.C1484T

p.A384V
p.A438V
p.A429V
p.A429V
p.A455V
p.A495V

20.9

0.002

Leblond2019 E

MED15

13946.p1

chr22:
20962279-20962279

A

C

intergenic

De novo

-

Turner2016 G

MED15

2-1456-003

chr22:
20875680-20875680

A

G

intronic

De novo

-

Yuen2017 G

MED15

PN400284

chr22:
20937201-20937201

C

T

exonic

Unknown

nonsynonymous SNV

NM_001293236
NM_001293234
NM_001293235
NM_001293237
NM_015889
NM_001003891

c.C1151T
c.C1313T
c.C1286T
c.C1286T
c.C1364T
c.C1484T

p.A384V
p.A438V
p.A429V
p.A429V
p.A455V
p.A495V

20.9

0.002

Leblond2019 E

MED15

A14

chr22:
20882586-20882586

C

T

intronic

De novo

-

Wu2018 G

MED15

14590.p1

chr22:
20884459-20884459

G

A

intronic

De novo

-

Turner2016 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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