Variant Results

or

or

Results for "ACE"

Variant Events: 13

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

ACE

iHART1461

chr17:
61574304-61574304

G

T

exonic

Paternal

stopgain

NM_001178057
NM_152830
NM_000789

c.G1804T
c.G1927T
c.G3649T

p.E602X
p.E643X
p.E1217X

29.0

Ruzzo2019 G

ACE

iHART1937

chr17:
61554547-61554548

AC

A

exonic

Paternal

frameshift deletion

NM_000789

c.93delC

p.D31fs

-

-

Ruzzo2019 G

ACE

AU076705

chr17:
61579087-61579087

C

G

intergenic

De novo

-

-

Yuen2017 G

ACE

iHART1462

chr17:
61574304-61574304

G

T

exonic

Paternal

stopgain

NM_001178057
NM_152830
NM_000789

c.G1804T
c.G1927T
c.G3649T

p.E602X
p.E643X
p.E1217X

29.0

Ruzzo2019 G

ACE

08C78236

chr17:
61558935-61558935

C

T

exonic

De novo

synonymous SNV

NM_000789

c.C954T

p.N318N

-

Fu2022 E
Satterstrom2020 E

ACE

3-0456-000

chr17:
61579014-61579014

A

C

intergenic

De novo

-

-

Yuen2017 G

ACE

14191.p1

chr17:
61566305-61566305

A

G

exonic

Mosaic, De novo

nonsynonymous SNV

NM_001178057
NM_152830
NM_000789

c.A731G
c.A731G
c.A2453G

p.Y244C
p.Y244C
p.Y818C

7.512

Dou2017 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G

ACE

AU3918302

chr17:
61592792-61592792

A

G

intergenic

De novo

-

-

Yuen2017 G

ACE

SP0074127

chr17:
61560928-61560928

G

GCGGGGGGGGGCCCCCCCCCCCCCCCC

intronic

De novo

-

-

Fu2022 E

ACE

SP0022178

chr17:
61568640-61568640

C

T

exonic

De novo

nonsynonymous SNV

NM_001178057
NM_152830
NM_000789

c.C1088T
c.C1088T
c.C2810T

p.P363L
p.P363L
p.P937L

17.64

-

Fu2022 E

ACE

3-0031-000

chr17:
61559006-61559022

TCTGGGAAGGGTCGATG

T

exonic

De novo

frameshift deletion

NM_000789

c.1026_1041del

p.F342fs

-

-

Tammimies2015 E

ACE

iHART1939

chr17:
61554547-61554548

AC

A

exonic

Paternal

frameshift deletion

NM_000789

c.93delC

p.D31fs

-

-

Ruzzo2019 G

ACE

70479

chr17:
61566305-61566305

A

G

exonic

De novo

nonsynonymous SNV

NM_001178057
NM_152830
NM_000789

c.A731G
c.A731G
c.A2453G

p.Y244C
p.Y244C
p.Y818C

7.512

Fu2022 E

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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