Variant Results

or

Results for "POLR2A"

Variant Events: 24

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

POLR2A

AU009805

chr17:
7411771-7411771

G

A

exonic

De novo

nonsynonymous SNV

NM_000937

c.G3442A

p.A1148T

27.0

-

Yuen2017 G
Zhou2022 GE

POLR2A

3-0065-000

chr17:
7435578-7435578

T

C

intergenic

De novo

-

Yuen2017 G

POLR2A

AU050603

chr17:
7431643-7431643

C

G

intergenic

De novo

-

Yuen2017 G

POLR2A

2-1505-004

chr17:
7392287-7392298

TTTCTCTGATCA

T

intronic

De novo

-

Yuen2017 G

POLR2A

12885.p1

chr17:
7405230-7405230

C

T

exonic

De novo

synonymous SNV

NM_000937

c.C2361T

p.V787V

-

1.648E-5

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

POLR2A

AU2224301

chr17:
7408987-7408988

AT

A

intronic

De novo

-

Trost2022 G

POLR2A

2-1302-003

chr17:
7393212-7393212

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

POLR2A

Chen2021:17

chr17:
7414872-7414872

C

T

exonic

De novo

nonsynonymous SNV

NM_000937

c.C4066T

p.R1356C

19.88

-

Chen2021 GET

POLR2A

SP0031954

chr17:
7404147-7404147

A

C

exonic

De novo

nonsynonymous SNV

NM_000937

c.A1861C

p.I621L

16.14

-

Fu2022 E
Zhou2022 GE

POLR2A

2-1458-003

chr17:
7409934-7409938

CACAA

C

intronic

De novo

-

Trost2022 G

POLR2A

SSC05731

chr17:
7405230-7405230

C

T

exonic

De novo

synonymous SNV

NM_000937

c.C2361T

p.V787V

-

1.648E-5

Trost2022 G

POLR2A

1-0677-004A

chr17:
7405556-7405556

T

A

intronic

De novo

-

Trost2022 G

POLR2A

2-0270-003

chr17:
7392287-7392298

TTTCTCTGATCA

T

intronic

De novo

-

Yuen2017 G

POLR2A

1-1149-003

chr17:
7396616-7396616

C

T

intronic

De novo

-

Trost2022 G

POLR2A

1339JS0017

chr17:
7416351-7416351

T

A

exonic

De novo

nonsynonymous SNV

NM_000937

c.T4768A

p.S1590T

19.27

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

POLR2A

AU2463301

chr17:
7405095-7405095

G

A

intronic

De novo

-

Trost2022 G

POLR2A

SP0080381

chr17:
7401469-7401469

T

G

exonic

De novo

nonsynonymous SNV

NM_000937

c.T1275G

p.D425E

7.499

-

Fu2022 E
Zhou2022 GE

POLR2A

MSSNG00024-003A

chr17:
7390601-7390601

G

A

intronic

De novo

-

Trost2022 G

POLR2A

DEASD_0450_001

chr17:
7416568-7416568

C

A

exonic

De novo

nonsynonymous SNV

NM_000937

c.C4985A

p.P1662H

9.541

-

Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

POLR2A

08C74853

chr17:
7416351-7416351

T

A

exonic

De novo

nonsynonymous SNV

NM_000937

c.T4768A

p.S1590T

19.27

-

Neale2012 E

POLR2A

SP0077905

chr17:
7416557-7416557

A

G

exonic

De novo

synonymous SNV

NM_000937

c.A4974G

p.S1658S

-

3.0E-4

Trost2022 G

POLR2A

SP0010656

chr17:
7416578-7416578

G

A

exonic

De novo

synonymous SNV

NM_000937

c.G4995A

p.S1665S

-

9.0E-4

Trost2022 G

POLR2A

1-0207-005

chr17:
7413104-7413105

TG

CA

intronic

De novo

-

Trost2022 G

POLR2A

1-0207-005

chr17:
7413109-7413109

C

T

intronic

De novo

-

Trost2022 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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