Variant Results

or

Results for "IPO4"

Variant Events: 12

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

IPO4

NDAR_INVYL539LYE_wes1

chr14:
24654348-24654348

G

A

intronic

De novo

-

2.0E-4

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

IPO4

12198.p1

chr14:
24650802-24650802

C

G

exonic

De novo

nonsynonymous SNV

NM_024658

c.G2962C

p.A988P

16.52

2.0E-4

Ji2016 E
Krumm2015 E

IPO4

SP0040218

chr14:
24656066-24656066

T

TACAACAAGATGGCTGCTGA

intronic

De novo

-

Fu2022 E

IPO4

SP0042611

chr14:
24657655-24657655

G

A

intronic

De novo

-

Fu2022 E
Trost2022 G
Trost2022 G

IPO4

iHART2431

chr14:
24653612-24653613

AC

A

exonic

Paternal

frameshift deletion

NM_024658

c.1648delG

p.V550fs

-

Ruzzo2019 G

IPO4

ASC_CA_176_A

chr14:
24653596-24653596

C

G

exonic

De novo

synonymous SNV

NM_024658

c.G1665C

p.V555V

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

IPO4

965_17au

chr14:
24657555-24657555

C

T

exonic

De novo

synonymous SNV

NM_024658

c.G231A

p.R77R

-

Fu2022 E

IPO4

mAGRE5491

chr14:
24654761-24654761

T

TG

exonic

Paternal

frameshift insertion

NM_024658

c.1181dupC

p.P394fs

-

Cirnigliaro2023 G

IPO4

mAGRE5489

chr14:
24654761-24654761

T

TG

exonic

Paternal

frameshift insertion

NM_024658

c.1181dupC

p.P394fs

-

Cirnigliaro2023 G

IPO4

mAGRE2431

chr14:
24653612-24653613

AC

A

exonic

Paternal

frameshift deletion

NM_024658

c.1648delG

p.V550fs

-

Cirnigliaro2023 G

IPO4

3-0788-000

chr14:
24652800-24652800

T

C

exonic

De novo

nonsynonymous SNV

NM_024658

c.A2059G

p.T687A

8.843

-

Trost2022 G
Zhou2022 GE

IPO4

SP0047808

chr14:
24656668-24656669

GC

G

exonic

De novo

frameshift deletion

NM_024658

c.525delG

p.G175fs

-

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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