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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       iHART1461chr17:
61574304-61574304
GTexonicPaternalstopgainNM_001178057
NM_152830
NM_000789
c.G1804T
c.G1927T
c.G3649T
p.E602X
p.E643X
p.E1217X
29.08.959E-6Ruzzo2019 G
ACE       iHART1937chr17:
61554547-61554548
ACAexonicPaternalframeshift deletionNM_000789c.93delCp.D31fs--Ruzzo2019 G
ACE       AU076705chr17:
61579087-61579087
CGintergenicDe novo--Yuen2017 G
ACE       iHART1462chr17:
61574304-61574304
GTexonicPaternalstopgainNM_001178057
NM_152830
NM_000789
c.G1804T
c.G1927T
c.G3649T
p.E602X
p.E643X
p.E1217X
29.08.959E-6Ruzzo2019 G
ACE       08C78236chr17:
61558935-61558935
CTexonicDe novosynonymous SNVNM_000789c.C954Tp.N318N-3.422E-5Fu2022 E
Satterstrom2020 E
ACE       3-0456-000chr17:
61579014-61579014
ACintergenicDe novo--Yuen2017 G
ACE       14191.p1chr17:
61566305-61566305
AGexonicDe novo, Mosaicnonsynonymous SNVNM_001178057
NM_152830
NM_000789
c.A731G
c.A731G
c.A2453G
p.Y244C
p.Y244C
p.Y818C
7.5121.649E-5Dou2017 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
ACE       AU3918302chr17:
61592792-61592792
AGintergenicDe novo--Yuen2017 G
ACE       SP0074127chr17:
61560928-61560928
GGCGGGGGGGGGCCCCCCCCCCCCCCCCintronicDe novo--Fu2022 E
ACE       SP0022178chr17:
61568640-61568640
CTexonicDe novononsynonymous SNVNM_001178057
NM_152830
NM_000789
c.C1088T
c.C1088T
c.C2810T
p.P363L
p.P363L
p.P937L
17.64-Fu2022 E
ACE       3-0031-000chr17:
61559006-61559022
TCTGGGAAGGGTCGATGTexonicDe novoframeshift deletionNM_000789c.1026_1041delp.F342fs--Tammimies2015 E
ACE       iHART1939chr17:
61554547-61554548
ACAexonicPaternalframeshift deletionNM_000789c.93delCp.D31fs--Ruzzo2019 G
ACE       70479chr17:
61566305-61566305
AGexonicDe novononsynonymous SNVNM_001178057
NM_152830
NM_000789
c.A731G
c.A731G
c.A2453G
p.Y244C
p.Y244C
p.Y818C
7.5121.649E-5Fu2022 E
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 notesView
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