Variant Results

or

or

Results for "ANPEP"

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

ANPEP

mAGRE4022

chr15:
90349542-90349543

CG

C

exonic

Maternal

frameshift deletion

NM_001150

c.272delC

p.P91fs

-

Cirnigliaro2023 G

ANPEP

mAGRE1700

chr15:
90349542-90349543

CG

C

exonic

Maternal

frameshift deletion

NM_001150

c.272delC

p.P91fs

-

Cirnigliaro2023 G

ANPEP

mAGRE1697

chr15:
90349542-90349543

CG

C

exonic

Maternal

frameshift deletion

NM_001150

c.272delC

p.P91fs

-

Cirnigliaro2023 G

ANPEP

mAGRE1695

chr15:
90349542-90349543

CG

C

exonic

Maternal

frameshift deletion

NM_001150

c.272delC

p.P91fs

-

Cirnigliaro2023 G

ANPEP

PN400171

chr15:
90347216-90347216

C

G

exonic

De novo

synonymous SNV

NM_001150

c.G1197C

p.V399V

-

-

Leblond2019 E

ANPEP

mAGRE5500

chr15:
90335682-90335682

C

T

splicing

Maternal

splicing

19.22

Cirnigliaro2023 G

ANPEP

mAGRE5499

chr15:
90335682-90335682

C

T

splicing

Maternal

splicing

19.22

Cirnigliaro2023 G

ANPEP

2-1397-003

chr15:
90334560-90334560

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ANPEP

SP0099266

chr15:
90328739-90328740

GA

G

intronic

De novo

-

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ANPEP

iHART1700

chr15:
90349542-90349543

CG

C

exonic

Maternal

frameshift deletion

NM_001150

c.272delC

p.P91fs

-

Ruzzo2019 G

ANPEP

AU0245-0201

chr15:
90347472-90347472

A

T

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

ANPEP

iHART1695

chr15:
90349542-90349543

CG

C

exonic

Maternal

frameshift deletion

NM_001150

c.272delC

p.P91fs

-

Ruzzo2019 G

ANPEP

3-0708-000

chr15:
90350775-90350775

C

CA

intronic

De novo

-

-

Trost2022 G

ANPEP

iHART1697

chr15:
90349542-90349543

CG

C

exonic

Maternal

frameshift deletion

NM_001150

c.272delC

p.P91fs

-

Ruzzo2019 G

ANPEP

SP0237783

chr15:
90347830-90347830

G

A

exonic

De novo

nonsynonymous SNV

NM_001150

c.C916T

p.P306S

21.0

-

Trost2022 G

ANPEP

SP0246768

chr15:
90349445-90349445

T

C

exonic

De novo

nonsynonymous SNV

NM_001150

c.A370G

p.S124G

22.7

-

Trost2022 G

ANPEP

7-0320-003

chr15:
90336207-90336207

G

A

intronic

De novo

-

-

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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