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Results for "ACACA"

Variant Events: 37

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     SP0116178chr17:
35592047-35592047		AGintronicDe novo--Fu2022 E
ACACA     SP0128163chr17:
35453884-35453884		GCintronicDe novo--Fu2022 E
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     SSC06157chr17:
35444118-35444118		CTUTR3De novo-5.302E-5Fu2022 E
ACACA     80001102105chr17:
35620665-35620665		GAexonicDe novostopgainNM_198837
NM_198838
NM_198834
NM_198836
NM_198839		c.C967T
c.C907T
c.C1252T
c.C1141T
c.C1141T		p.Q323X
p.Q303X
p.Q418X
p.Q381X
p.Q381X		43.0-Fu2022 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     SP0033688chr17:
35766337-35766337		GCintronicDe novo--Fu2022 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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