Variant Results

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Results for "IPCEF1"

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

IPCEF1

14637.p1

chr6:
154664402-154664402

T

G

intronic

De novo

-

-

Turner2016 G

IPCEF1

PN400284

chr6:
154489119-154489119

C

T

exonic

Unknown

nonsynonymous SNV

NM_001130700
NM_015553
NM_001130699

c.G1040A
c.G1037A
c.G1040A

p.R347Q
p.R346Q
p.R347Q

35.0

-

Leblond2019 E

IPCEF1

AU2100302

chr6:
154607885-154607885

C

T

intronic

De novo

-

-

Yuen2017 G

IPCEF1

12449.p1

chr6:
154525242-154525242

C

T

intronic

De novo

-

-

Turner2016 G

IPCEF1

1-0593-003

chr6:
154722487-154722498

TTCTCTCTCTCT

TTCTCTCTCT

intergenic

De novo

-

-

Yuen2017 G

IPCEF1

11414.p1

chr6:
154481044-154481044

C

G

exonic

De novo

synonymous SNV

NM_001130700
NM_015553
NM_001130699

c.G1236C
c.G1233C
c.G1236C

p.S412S
p.S411S
p.S412S

-

Satterstrom2020 E

IPCEF1

1-0329-003

chr6:
154621212-154621212

A

G

intronic

De novo

-

-

Yuen2017 G

IPCEF1

2-0215-003

chr6:
154517303-154517303

C

T

intronic

De novo

-

-

Yuen2017 G

IPCEF1

2-0057-004

chr6:
154500634-154500634

C

A

intronic

De novo

-

-

Yuen2017 G

IPCEF1

AU031003

chr6:
154558466-154558466

T

A

intronic

De novo

-

-

Yuen2017 G

IPCEF1

1-0045-004

chr6:
154573855-154573855

G

A

intronic

De novo

-

-

Yuen2017 G

IPCEF1

1-0673-003

chr6:
154681163-154681164

GA

G

intergenic

De novo

-

-

Yuen2017 G

IPCEF1

1-0043-003

chr6:
154641493-154641493

T

C

intronic

De novo

-

-

Yuen2017 G

IPCEF1

AU005214

chr6:
154624617-154624617

C

A

intronic

De novo

-

-

Yuen2017 G

IPCEF1

A24

chr6:
154621573-154621573

C

T

intronic

De novo

-

-

Wu2018 G

IPCEF1

2-1342-003

chr6:
154529109-154529109

C

T

intronic

De novo

-

-

Yuen2016 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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