Variant Results

or

Results for "ACADM"

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

ACADM

SP0134520

chr1:
76198612-76198612

G

A

intronic

De novo

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ACADM

SP0075404

chr1:
76198844-76198844

G

A

intronic

De novo

-

5.3E-5

Fu2022 E
Trost2022 G

ACADM

1-0043-004

chr1:
76238474-76238474

A

G

intergenic

De novo

-

Yuen2017 G

ACADM

SP0104571

chr1:
76215194-76215194

G

A

exonic

De novo

nonsynonymous SNV

NM_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

35.0

2.0E-4

Trost2022 G
Zhou2022 GE

ACADM

14482.p1

chr1:
76247046-76247046

C

T

intergenic

De novo

-

Turner2016 G

ACADM

REACH000754

chr1:
76204581-76204581

C

T

intronic

De novo

-

Trost2022 G

ACADM

1-0344-003

chr1:
76239118-76239118

T

G

intergenic

De novo

-

Yuen2017 G

ACADM

2-0286-004

chr1:
76192755-76192756

TG

T

intronic

De novo

-

Trost2022 G

ACADM

1-0098-003A

chr1:
76190656-76190656

C

G

intronic

De novo

-

Trost2022 G

ACADM

11217.p1

chr1:
76190455-76190455

G

T

UTR5

De novo

-

Krumm2015 E

ACADM

iHART2450

chr1:
76199211-76199211

A

G

splicing

Paternal

splicing

19.33

-

Ruzzo2019 G

ACADM

mAGRE2450

chr1:
76199211-76199211

A

G

splicing

Paternal

splicing

19.33

-

Cirnigliaro2023 G

ACADM

1-0181-004

chr1:
76192000-76192000

G

A

intronic

De novo

-

Yuen2017 G

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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