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Results for "ACACA"

Variant Events: 32

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
ACACA     2-1066-004chr17:
35453448-35453448
TGintronicDe novo--Yuen2017 G
ACACA     PN400394chr17:
35620739-35620739
CTexonicUnknownnonsynonymous SNVNM_198837
NM_198838
NM_198834
NM_198836
NM_198839
c.G893A
c.G833A
c.G1178A
c.G1067A
c.G1067A
p.R298H
p.R278H
p.R393H
p.R356H
p.R356H
36.02.0E-4Leblond2019 E
ACACA     ASC_CA_129_Achr17:
35634022-35634022
ATintronicDe novo--Satterstrom2020 E
ACACA     1-0107-003chr17:
35566831-35566831
TCintronicDe novo--Yuen2016 G
Yuen2017 G
ACACA     PN400179chr17:
35620739-35620739
CTexonicInherited, Unknownnonsynonymous SNVNM_198837
NM_198838
NM_198834
NM_198836
NM_198839
c.G893A
c.G833A
c.G1178A
c.G1067A
c.G1067A
p.R298H
p.R278H
p.R393H
p.R356H
p.R356H
36.02.0E-4Leblond2019 E
Leblond2019 E
ACACA     1-0772-003chr17:
35620411-35620411
CAintronicDe novo--Yuen2017 G
ACACA     2-1722-003chr17:
35735570-35735570
GTintronicDe novo--Yuen2017 G
ACACA     2-1722-003chr17:
35735582-35735582
CTintronicDe novo--Yuen2017 G
ACACA     AU1223301chr17:
35596733-35596733
GAintronicDe novo--Yuen2017 G
ACACA     PN400412chr17:
35620739-35620739
CTexonicUnknownnonsynonymous SNVNM_198837
NM_198838
NM_198834
NM_198836
NM_198839
c.G893A
c.G833A
c.G1178A
c.G1067A
c.G1067A
p.R298H
p.R278H
p.R393H
p.R356H
p.R356H
36.02.0E-4Leblond2019 E
ACACA     PN400523chr17:
35620739-35620739
CTexonicInherited, Unknownnonsynonymous SNVNM_198837
NM_198838
NM_198834
NM_198836
NM_198839
c.G893A
c.G833A
c.G1178A
c.G1067A
c.G1067A
p.R298H
p.R278H
p.R393H
p.R356H
p.R356H
36.02.0E-4Leblond2019 E
Leblond2019 E
ACACA     1-0181-004chr17:
35690351-35690351
GAintronicDe novo--Yuen2017 G
ACACA     74-0352chr17:
35457119-35457119
CTintronicDe novo--Michaelson2012 G
ACACA     2-0256-004chr17:
35703473-35703473
GAintronicDe novo--Yuen2017 G
ACACA     PN400424chr17:
35620739-35620739
CTexonicUnknownnonsynonymous SNVNM_198837
NM_198838
NM_198834
NM_198836
NM_198839
c.G893A
c.G833A
c.G1178A
c.G1067A
c.G1067A
p.R298H
p.R278H
p.R393H
p.R356H
p.R356H
36.02.0E-4Leblond2019 E
ACACA     PN400203chr17:
35620739-35620739
CTexonicUnknownnonsynonymous SNVNM_198837
NM_198838
NM_198834
NM_198836
NM_198839
c.G893A
c.G833A
c.G1178A
c.G1067A
c.G1067A
p.R298H
p.R278H
p.R393H
p.R356H
p.R356H
36.02.0E-4Leblond2019 E
ACACA     AU1640302chr17:
35658069-35658069
AGintronicDe novo--Yuen2017 G
ACACA     5-0148-003chr17:
35608804-35608804
CGintronicDe novo--Yuen2017 G
ACACA     PN400257chr17:
35620739-35620739
CTexonicUnknownnonsynonymous SNVNM_198837
NM_198838
NM_198834
NM_198836
NM_198839
c.G893A
c.G833A
c.G1178A
c.G1067A
c.G1067A
p.R298H
p.R278H
p.R393H
p.R356H
p.R356H
36.02.0E-4Leblond2019 E
ACACA     PN400524chr17:
35620739-35620739
CTexonicUnknownnonsynonymous SNVNM_198837
NM_198838
NM_198834
NM_198836
NM_198839
c.G893A
c.G833A
c.G1178A
c.G1067A
c.G1067A
p.R298H
p.R278H
p.R393H
p.R356H
p.R356H
36.02.0E-4Leblond2019 E
ACACA     PN400505chr17:
35620739-35620739
CTexonicUnknownnonsynonymous SNVNM_198837
NM_198838
NM_198834
NM_198836
NM_198839
c.G893A
c.G833A
c.G1178A
c.G1067A
c.G1067A
p.R298H
p.R278H
p.R393H
p.R356H
p.R356H
36.02.0E-4Leblond2019 E
ACACA     iHART1876chr17:
35597464-35597464
GAexonicDe novostopgainNM_198837
NM_198838
NM_198834
NM_198836
NM_198839
c.C2764T
c.C2704T
c.C3049T
c.C2938T
c.C2938T
p.R922X
p.R902X
p.R1017X
p.R980X
p.R980X
45.0-Ruzzo2019 G
ACACA     PN400576chr17:
35620739-35620739
CTexonicUnknownnonsynonymous SNVNM_198837
NM_198838
NM_198834
NM_198836
NM_198839
c.G893A
c.G833A
c.G1178A
c.G1067A
c.G1067A
p.R298H
p.R278H
p.R393H
p.R356H
p.R356H
36.02.0E-4Leblond2019 E
ACACA     12573.p1chr17:
35748566-35748566
CGintronicDe novo--Satterstrom2020 E
ACACA     2-1107-003chr17:
35679704-35679704
CTintronicDe novo--Yuen2016 G
Yuen2017 G
ACACA     JASD_Fam0074chr17:
35487135-35487135
GAexonicDe novononsynonymous SNVNM_198837
NM_198838
NM_198834
NM_198836
NM_198839
c.C5404T
c.C5344T
c.C5689T
c.C5578T
c.C5578T
p.R1802W
p.R1782W
p.R1897W
p.R1860W
p.R1860W
20.88.237E-6Takata2018 E
ACACA     A26chr17:
35663320-35663320
CTintronicDe novo--Wu2018 G
ACACA     PN400166chr17:
35620739-35620739
CTexonicUnknownnonsynonymous SNVNM_198837
NM_198838
NM_198834
NM_198836
NM_198839
c.G893A
c.G833A
c.G1178A
c.G1067A
c.G1067A
p.R298H
p.R278H
p.R393H
p.R356H
p.R356H
36.02.0E-4Leblond2019 E
ACACA     1-0435-003chr17:
35641846-35641846
CTexonicDe novononsynonymous SNVNM_198837
NM_198838
NM_198834
NM_198836
NM_198839
c.G79A
c.G19A
c.G364A
c.G253A
c.G253A
p.V27I
p.V7I
p.V122I
p.V85I
p.V85I
18.48-Yuen2017 G
ACACA     2-0149-004chr17:
35637240-35637240
CTintronicDe novo--Yuen2017 G
ACACA     PN400507chr17:
35620739-35620739
CTexonicUnknownnonsynonymous SNVNM_198837
NM_198838
NM_198834
NM_198836
NM_198839
c.G893A
c.G833A
c.G1178A
c.G1067A
c.G1067A
p.R298H
p.R278H
p.R393H
p.R356H
p.R356H
36.02.0E-4Leblond2019 E
ACACA     PN400129chr17:
35620739-35620739
CTexonicUnknownnonsynonymous SNVNM_198837
NM_198838
NM_198834
NM_198836
NM_198839
c.G893A
c.G833A
c.G1178A
c.G1067A
c.G1067A
p.R298H
p.R278H
p.R393H
p.R356H
p.R356H
36.02.0E-4Leblond2019 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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