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Results for "ACADM"

Variant Events: 15

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
ACADM     SP0134520chr1:
76198612-76198612
GAintronicDe novo--Fu2022 E
Trost2022 G
Zhou2022 GE
ACADM     14634.p1chr1:
76226846-76226846
AGexonicMaternalnonsynonymous SNVNM_001286044
NM_001286042
NM_000016
NM_001127328
NM_001286043
c.A418G
c.A877G
c.A985G
c.A997G
c.A1084G
p.K140E
p.K293E
p.K329E
p.K333E
p.K362E
16.680.0033Lowther2023 G
ACADM     SP0075404chr1:
76198844-76198844
GAintronicDe novo-5.3E-5Fu2022 E
Trost2022 G
ACADM     14634.p1chr1:
76205779-76205779
GAexonicMaternalnonsynonymous SNVNM_001286044
NM_001286042
NM_000016
NM_001127328
NM_001286043
c.G16A
c.G475A
c.G583A
c.G595A
c.G682A
p.G6R
p.G159R
p.G195R
p.G199R
p.G228R
24.72.473E-5Lowther2023 G
ACADM     1-0043-004chr1:
76238474-76238474
AGintergenicDe novo--Yuen2017 G
ACADM     SP0104571chr1:
76215194-76215194
GAexonicDe novononsynonymous SNVNM_001286044
NM_001286042
NM_000016
NM_001127328
NM_001286043
c.G232A
c.G691A
c.G799A
c.G811A
c.G898A
p.G78R
p.G231R
p.G267R
p.G271R
p.G300R
35.02.0E-4Trost2022 G
Zhou2022 GE
ACADM     14482.p1chr1:
76247046-76247046
CTintergenicDe novo--Turner2016 G
ACADM     REACH000754chr1:
76204581-76204581
CTintronicDe novo--Trost2022 G
ACADM     1-0344-003chr1:
76239118-76239118
TGintergenicDe novo--Yuen2017 G
ACADM     2-0286-004chr1:
76192755-76192756
TGTintronicDe novo--Trost2022 G
ACADM     1-0098-003Achr1:
76190656-76190656
CGintronicDe novo--Trost2022 G
ACADM     11217.p1chr1:
76190455-76190455
GTUTR5De novo--Krumm2015 E
ACADM     iHART2450chr1:
76199211-76199211
AGsplicingPaternalsplicing19.33-Ruzzo2019 G
ACADM     mAGRE2450chr1:
76199211-76199211
AGsplicingPaternalsplicing19.33-Cirnigliaro2023 G
ACADM     1-0181-004chr1:
76192000-76192000
GAintronicDe novo--Yuen2017 G
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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