Variant Results

or

Results for "MED13"

Variant Events: 48

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

MED13

2-1195-003

chr17:
60049152-60049152

G

A

intronic

De novo

-

Yuen2016 G

MED13

2-1735-003

chr17:
60195949-60195949

G

A

intergenic

De novo

-

Yuen2017 G

MED13

AU054303

chr17:
60099301-60099301

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MED13

12235_p1

chr17:
60060310-60060319

AGGAGTCCTT

A

exonic

De novo

nonframeshift deletion

NM_005121

c.3045_3053del

p.1015_1018del

-

1.657E-5

Fu2022 E

MED13

1-0572-003

chr17:
60067950-60067964

CTATATATATATATA

CTATATATATATA

intronic

De novo

-

Yuen2017 G

MED13

14450_p1

chr17:
60111145-60111145

T

C

intronic

De novo

-

Fu2022 E

MED13

80001101052

chr17:
60108834-60108834

G

T

exonic

De novo

nonsynonymous SNV

NM_005121

c.C980A

p.P327Q

20.4

-

Fu2022 E

MED13

1-0259-005

chr17:
60062132-60062132

A

G

exonic

De novo

synonymous SNV

NM_005121

c.T2571C

p.Y857Y

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

MED13

AU3918302

chr17:
60034871-60034871

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MED13

1-0701-003

chr17:
60106933-60106933

C

T

exonic

De novo

nonsynonymous SNV

NM_005121

c.G1252A

p.A418T

14.61

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

MED13

09C89982

chr17:
60088344-60088344

G

A

exonic

De novo

stopgain

NM_005121

c.C1534T

p.R512X

18.75

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MED13

CC1247_202

chr17:
60112953-60112953

A

G

exonic

De novo

nonsynonymous SNV

NM_005121

c.T487C

p.S163P

21.3

-

Fu2022 E

MED13

3C560

chr17:
60033138-60033140

CAT

C

exonic

De novo

frameshift deletion

NM_005121

c.5683_5684del

p.M1895fs

-

8.293E-6

Fu2022 E

MED13

MSSNG00169-003

chr17:
60139082-60139082

G

A

intronic

De novo

-

Trost2022 G

MED13

1-1039-003

chr17:
60139939-60139939

A

AAC

intronic

De novo

-

Trost2022 G

MED13

7-0458-003

chr17:
60055141-60055141

T

C

intronic

De novo

-

Trost2022 G

MED13

1-0191-004

chr17:
60165901-60165917

GGTCCCTTTTGGACTAT

G

intergenic

De novo

-

Yuen2017 G

MED13

AU072505

chr17:
60090367-60090367

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MED13

7-0452-003

chr17:
60114188-60114188

G

C

intronic

De novo

-

Trost2022 G

MED13

SP0073901

chr17:
60042626-60042626

C

CT

exonic

De novo

frameshift insertion

NM_005121

c.4584dupA

p.A1529fs

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

MED13

4-0047-003

chr17:
60041933-60041933

G

T

intronic

De novo

-

Trost2022 G

MED13

1-1204-003

chr17:
60051948-60051948

G

A

intronic

De novo

-

Trost2022 G

MED13

SSC08994

chr17:
60108956-60108957

AG

A

exonic

De novo

frameshift deletion

NM_005121

c.857delC

p.P286fs

-

Antaki2022 GE
Fu2022 E
Trost2022 G

MED13

SP0001591

chr17:
60108905-60108905

A

AC

exonic

De novo

frameshift insertion

NM_005121

c.908_909insG

p.S303fs

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

MED13

5-5237-003

chr17:
60030288-60030288

G

A

intronic

De novo

-

4.311E-5

Trost2022 G

MED13

1-0985-003

chr17:
60086289-60086289

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MED13

AU2433302

chr17:
60020023-60020023

T

G

UTR3

De novo

-

Yuen2017 G

MED13

AU3122301

chr17:
60088344-60088344

G

A

exonic

De novo

stopgain

NM_005121

c.C1534T

p.R512X

18.75

-

Yuen2017 G
Zhou2022 GE

MED13

SP0070732

chr17:
60038436-60038436

G

A

exonic

De novo

stopgain

NM_005121

c.C5272T

p.R1758X

45.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

MED13

SP0114649

chr17:
60108822-60108822

G

C

exonic

De novo

nonsynonymous SNV

NM_005121

c.C992G

p.P331R

22.7

-

Fu2022 E
Trost2022 G
Zhou2022 GE

MED13

SP0071998

chr17:
60038436-60038436

G

A

exonic

De novo

stopgain

NM_005121

c.C5272T

p.R1758X

45.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

MED13

1-0191-003

chr17:
60136188-60136188

A

AGT

intronic

De novo

-

Trost2022 G
Yuen2017 G

MED13

2-1356-003

chr17:
60121428-60121428

G

A

intronic

De novo

-

Yuen2016 G

MED13

1-0868-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

MED13

2-1120-003

chr17:
60145720-60145720

C

T

intergenic

De novo

-

Yuen2017 G

MED13

1-0700-003A

chr17:
60088086-60088086

C

A

exonic

De novo

nonsynonymous SNV

NM_005121

c.G1792T

p.V598L

9.417

7.667E-5

Trost2022 G
Zhou2022 GE

MED13

13813.p1

chr17:
60108956-60108957

AG

A

exonic

De novo

frameshift deletion

NM_005121

c.857delC

p.P286fs

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

MED13

1-0191-003

chr17:
60165901-60165917

GGTCCCTTTTGGACTAT

G

intergenic

De novo

-

Yuen2017 G

MED13

14450.p1

chr17:
60111145-60111145

T

C

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MED13

AU4176302

chr17:
60248775-60248775

T

C

intergenic

De novo

-

Yuen2017 G

MED13

SP0046238

chr17:
60039105-60039105

C

T

exonic

De novo

synonymous SNV

NM_005121

c.G5100A

p.K1700K

-

8.284E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

MED13

3-0428-000

chr17:
60092437-60092437

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

MED13

12091.p1

chr17:
60057115-60057115

C

T

intronic

De novo

-

Werling2018 G

MED13

12235.p1

chr17:
60060310-60060319

AGGAGTCCTT

A

exonic

De novo

nonframeshift deletion

NM_005121

c.3045_3053del

p.1015_1018del

-

1.657E-5

Dong2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

MED13

AU3912303

chr17:
60078828-60078828

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MED13

AU4028302

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

MED13

1-0547-003

chr17:
60290430-60290446

GTATTATTATTATTATT

GTATTATTATTATT

intergenic

De novo

-

Yuen2017 G

MED13

2-1579-003

chr17:
60084023-60084031

CCTGTCTGT

CCTGT

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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