Variant Results

or

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Results for "ANXA3"

Variant Events: 14

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

ANXA3

iHART1252

chr4:
79494343-79494343

C

T

exonic

Maternal

stopgain

NM_005139

c.C25T

p.R9X

39.0

Ruzzo2019 G

ANXA3

3C546

chr4:
79518589-79518589

A

G

intronic

De novo

-

-

Satterstrom2020 E
Trost2022 G

ANXA3

iHART1245

chr4:
79494343-79494343

C

T

exonic

Maternal

stopgain

NM_005139

c.C25T

p.R9X

39.0

Ruzzo2019 G

ANXA3

5-0101-003

chr4:
79499504-79499504

G

A

intronic

De novo

-

-

Trost2022 G

ANXA3

1-0526-003

chr4:
79497662-79497662

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ANXA3

1-0661-003

chr4:
79529813-79529813

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ANXA3

2-1086-003

chr4:
79519843-79519843

G

A

intronic

De novo

-

-

Yuen2017 G

ANXA3

11354.p1

chr4:
79516987-79516987

G

A

exonic

Mosaic

nonsynonymous SNV

NM_005139

c.G580A

p.E194K

34.0

Dou2017 E

ANXA3

mAGRE1252

chr4:
79494343-79494343

C

T

exonic

Maternal

stopgain

NM_005139

c.C25T

p.R9X

39.0

Cirnigliaro2023 G

ANXA3

3-0359-000

chr4:
79504736-79504736

C

A

intronic

De novo

-

-

Trost2022 G

ANXA3

mAGRE1245

chr4:
79494343-79494343

C

T

exonic

Maternal

stopgain

NM_005139

c.C25T

p.R9X

39.0

Cirnigliaro2023 G

ANXA3

REACH000101

chr4:
79517181-79517181

G

C

intronic

De novo

-

-

Trost2022 G

ANXA3

2-1222-003

chr4:
79537932-79537932

T

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

ANXA3

2-1502-003

chr4:
79555339-79555339

C

T

intergenic

De novo

-

-

Yuen2017 G

Source Variant Information

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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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