Variant Results

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or

Results for "ANGPT2"

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

ANGPT2

MSSNG00053-003

chr8:
6378824-6378824

G

A

exonic

De novo

nonsynonymous SNV

NM_001118888
NM_001118887
NM_001147

c.C518T
c.C674T
c.C674T

p.S173F
p.S225F
p.S225F

11.56

-

Trost2022 G
Trost2022 G
Zhou2022 GE

ANGPT2

SP0068314

chr8:
6360731-6360731

G

A

exonic

De novo

nonsynonymous SNV

NM_001118888
NM_001118887
NM_001147

c.C1226T
c.C1379T
c.C1382T

p.P409L
p.P460L
p.P461L

24.0

-

Fu2022 E
Trost2022 G
Trost2022 G
Zhou2022 GE

ANGPT2

AU2463301

chr8:
6361272-6361272

C

T

intronic

De novo

-

-

Trost2022 G
Trost2022 G

ANGPT2

SSC11925

chr8:
6360752-6360752

T

C

exonic

De novo

nonsynonymous SNV

NM_001118888
NM_001118887
NM_001147

c.A1205G
c.A1358G
c.A1361G

p.N402S
p.N453S
p.N454S

29.5

-

Fu2022 E
Lim2017 E
Trost2022 G

ANGPT2

1-1005-005A

chr8:
6359536-6359536

C

G

UTR3

De novo

-

-

Trost2022 G
Trost2022 G

ANGPT2

SP0125004

chr8:
6371290-6371290

C

T

exonic

De novo

nonsynonymous SNV

NM_001118888
NM_001118887
NM_001147

c.G952A
c.G1105A
c.G1108A

p.V318M
p.V369M
p.V370M

10.56

Fu2022 E
Trost2022 G
Trost2022 G
Zhou2022 GE

ANGPT2

2-1383-003

chr8:
6380158-6380158

G

T

intronic

De novo

-

-

Yuen2017 G

ANGPT2

1-0214-003

chr8:
6375064-6375064

C

T

intronic

De novo

-

-

Trost2022 G
Trost2022 G
Yuen2017 G

ANGPT2

AU4028302

chr8:
6414388-6414388

G

A

intronic

De novo

-

-

Trost2022 G
Trost2022 G
Yuen2017 G

ANGPT2

14467.p1

chr8:
6360752-6360752

T

C

exonic

De novo

nonsynonymous SNV

NM_001118888
NM_001118887
NM_001147

c.A1205G
c.A1358G
c.A1361G

p.N402S
p.N453S
p.N454S

29.5

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

ANGPT2

5-0018-003

chr8:
6359138-6359138

C

T

UTR3

De novo

-

-

Trost2022 G
Yuen2017 G

ANGPT2

1-0214-003

chr8:
6377718-6377718

G

A

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
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