Variant Results

or

Results for "POLN"

Variant Events: 16

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

POLN

EGAN00001101036

chr4:
2073633-2073633

T

G

downstream

De novo

-

Satterstrom2020 E

POLN

AU3605303

chr4:
2103283-2103283

C

G

intronic

De novo

-

Yuen2017 G

POLN

AU4273304

chr4:
2227236-2227236

G

A

intronic

De novo

-

Yuen2017 G

POLN

AU057404

chr4:
2198175-2198175

A

C

intronic

De novo

-

Yuen2017 G

POLN

2-1120-003

chr4:
2151532-2151532

C

T

intronic

De novo

-

Yuen2017 G

POLN

Cukier2014:7637

chr4:
2195009-2195009

G

A

exonic

Unknown

nonsynonymous SNV

NM_181808

c.C943T

p.P315S

14.02

0.008

Cukier2014 E

POLN

2-1425-004

chr4:
2119846-2119857

GTACCTTGAGTT

G

intronic

De novo

-

Yuen2017 G

POLN

iHART2308

chr4:
2083396-2083396

G

A

exonic

Maternal

stopgain

NM_181808

c.C2272T

p.Q758X

19.79

8.249E-6

Ruzzo2019 G

POLN

iHART1531

chr4:
2073900-2073901

CA

C

exonic

Paternal

frameshift deletion

NM_181808

c.2643delT

p.P881fs

-

6.0E-4

Ruzzo2019 G

POLN

12626.p1

chr4:
2129967-2129967

G

A

intronic

De novo

-

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

POLN

iHART1995

chr4:
2172830-2172830

G

A

exonic

Paternal

stopgain

NM_181808

c.C1453T

p.R485X

16.25

1.648E-5

Ruzzo2019 G

POLN

1-0906-003

chr4:
2080708-2080709

GT

G

intronic

De novo

-

Yuen2017 G

POLN

AU3912301

chr4:
2186238-2186238

C

T

intronic

De novo

-

Yuen2017 G

POLN

1-0777-003

chr4:
2123693-2123693

G

A

intronic

De novo

-

Yuen2017 G

POLN

1-0435-003

chr4:
2218613-2218613

C

T

intronic

De novo

-

Yuen2017 G

POLN

AU3638302

chr4:
2196556-2196556

T

G

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
	More