Variant Results

or

or

Results for "POLR2B"

Variant Events: 13

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

POLR2B

5-0050-003

chr4:
57871339-57871343

CTAAG

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

POLR2B

5421

chr4:
57896546-57896546

G

C

exonic

De novo

nonsynonymous SNV

NM_001303268
NM_000938
NM_001303269

c.G3191C
c.G3416C
c.G3395C

p.G1064A
p.G1139A
p.G1132A

12.59

Trost2022 G

POLR2B

11526.p1

chr4:
57896546-57896546

G

C

exonic

De novo

nonsynonymous SNV

NM_001303268
NM_000938
NM_001303269

c.G3191C
c.G3416C
c.G3395C

p.G1064A
p.G1139A
p.G1132A

12.59

Satterstrom2020 E

POLR2B

SP0034666

chr4:
57891643-57891645

ACT

A

exonic

De novo

frameshift deletion

NM_001303268
NM_000938
NM_001303269

c.2955_2956del
c.3180_3181del
c.3159_3160del

p.H985fs
p.H1060fs
p.H1053fs

-

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

POLR2B

1876-23644

chr4:
57887162-57887162

G

T

splicing

splicing

15.21

-

Callaghan2019 G

POLR2B

7-0059-003

chr4:
57886494-57886494

G

A

intronic

De novo

-

-

Trost2022 G

POLR2B

7-0252-003

chr4:
57892260-57892260

C

T

intronic

De novo

-

-

Trost2022 G

POLR2B

AU048206

chr4:
57882699-57882699

T

A

intronic

De novo

-

-

Trost2022 G

POLR2B

SP0033480

chr4:
57887121-57887121

G

T

exonic

De novo

nonsynonymous SNV

NM_001303268
NM_000938
NM_001303269

c.G2155T
c.G2380T
c.G2359T

p.V719F
p.V794F
p.V787F

29.1

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

POLR2B

SP0121943

chr4:
57889551-57889551

G

T

exonic

De novo

synonymous SNV

NM_001303268
NM_000938
NM_001303269

c.G2346T
c.G2571T
c.G2550T

p.G782G
p.G857G
p.G850G

-

-

Fu2022 E
Trost2022 G
Zhou2022 GE

POLR2B

SP0037923

chr4:
57851524-57851524

G

T

UTR5

De novo

-

-

Fu2022 E
Trost2022 G

POLR2B

1-0150-003

chr4:
57881215-57881215

G

A

intronic

De novo

-

-

Yuen2017 G

POLR2B

7-0273-003

chr4:
57876115-57876115

G

C

intronic

De novo

-

-

Trost2022 G
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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