Variant Results

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Results for "POLR1E"

Variant Events: 17

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

POLR1E

08C73454

chr9:
37486748-37486748

C

A

exonic

De novo

nonsynonymous SNV

NM_022490

c.C125A

p.T42N

16.21

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

POLR1E

SP0234341

chr9:
37503103-37503103

C

T

exonic

De novo

synonymous SNV

NM_022490
NM_001282766

c.C1164T
c.C954T

p.A388A
p.A318A

-

Trost2022 G

POLR1E

1-0952-003

chr9:
37486294-37486294

A

G

intronic

De novo

-

-

Trost2022 G

POLR1E

iHART2854

chr9:
37495274-37495274

G

A

splicing

Paternal

splicing

25.7

Ruzzo2019 G

POLR1E

mAGRE2853

chr9:
37495274-37495274

G

A

splicing

Paternal

splicing

25.7

Cirnigliaro2023 G

POLR1E

iHART2853

chr9:
37495274-37495274

G

A

splicing

Paternal

splicing

25.7

Ruzzo2019 G

POLR1E

mAGRE4117

chr9:
37493592-37493594

CAG

C

exonic

Paternal

frameshift deletion

NM_022490
NM_001282766

c.440_441del
c.230_231del

p.Q147fs
p.Q77fs

-

-

Cirnigliaro2023 G

POLR1E

iHART3052

chr9:
37500856-37500857

TC

T

exonic

Maternal

frameshift deletion

NM_022490
NM_001282766

c.907delC
c.697delC

p.P303fs
p.P233fs

-

-

Ruzzo2019 G

POLR1E

mAGRE4116

chr9:
37493592-37493594

CAG

C

exonic

Paternal

frameshift deletion

NM_022490
NM_001282766

c.440_441del
c.230_231del

p.Q147fs
p.Q77fs

-

-

Cirnigliaro2023 G

POLR1E

iHART3056

chr9:
37500856-37500857

TC

T

exonic

Maternal

frameshift deletion

NM_022490
NM_001282766

c.907delC
c.697delC

p.P303fs
p.P233fs

-

-

Ruzzo2019 G

POLR1E

P1286

chr9:
37498215-37498215

C

T

exonic

De novo

nonsynonymous SNV

NM_022490
NM_001282766

c.C880T
c.C670T

p.R294W
p.R224W

15.27

Hashimoto2016 E

POLR1E

A19

chr9:
37506349-37506349

G

A

intergenic

De novo

-

-

Wu2018 G

POLR1E

SP0036741

chr9:
37486368-37486368

C

T

intronic

De novo

-

-

Fu2022 E

POLR1E

EGAN00001101020

chr9:
37486004-37486004

C

G

UTR5

De novo

-

Satterstrom2020 E
Trost2022 G

POLR1E

AU3052303

chr9:
37500856-37500857

TC

T

exonic

Maternal

frameshift deletion

NM_022490
NM_001282766

c.907delC
c.697delC

p.P303fs
p.P233fs

-

-

Cirnigliaro2023 G

POLR1E

AU3052302

chr9:
37500856-37500857

TC

T

exonic

Maternal

frameshift deletion

NM_022490
NM_001282766

c.907delC
c.697delC

p.P303fs
p.P233fs

-

-

Cirnigliaro2023 G

POLR1E

mAGRE2854

chr9:
37495274-37495274

G

A

splicing

Paternal

splicing

25.7

Cirnigliaro2023 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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