Variant Results

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Results for "ABCD4"

Variant Events: 26

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

ABCD4

1-0354-006

chr14:
74756273-74756273

A

C

intronic

De novo

-

-

Trost2022 G

ABCD4

SP0165968

chr14:
74764746-74764746

G

A

exonic

De novo

synonymous SNV

NM_005050

c.C312T

p.C104C

9.963

-

Trost2022 G

ABCD4

4-0077-003

chr14:
74756273-74756273

A

C

intronic

De novo

-

-

Trost2022 G

ABCD4

4-0054-003

chr14:
74756273-74756273

A

C

intronic

De novo

-

-

Trost2022 G

ABCD4

4-0073-003

chr14:
74756273-74756273

A

C

intronic

De novo

-

-

Trost2022 G

ABCD4

4-0062-003

chr14:
74756273-74756273

A

C

intronic

De novo

-

-

Trost2022 G

ABCD4

4-0077-003

chr14:
74756270-74756270

C

G

intronic

De novo

-

Trost2022 G

ABCD4

1-0054-003

chr14:
74807386-74807386

A

G

intergenic

De novo

-

-

Yuen2017 G

ABCD4

4-0062-003

chr14:
74756270-74756270

C

G

intronic

De novo

-

Trost2022 G

ABCD4

12687.p1

chr14:
74766252-74766252

G

A

exonic

Mosaic

nonsynonymous SNV

NM_005050

c.C284T

p.T95M

12.18

Dou2017 E

ABCD4

SP0099911

chr14:
74769597-74769597

C

T

exonic

De novo

nonsynonymous SNV

NM_005050

c.G19A

p.A7T

11.47

Fu2022 E
Trost2022 G
Zhou2022 GE

ABCD4

SP0127252

chr14:
74756243-74756243

C

T

intronic

De novo

-

-

Fu2022 E
Trost2022 G

ABCD4

SP0076599

chr14:
74757052-74757052

C

T

exonic

De novo

synonymous SNV

NM_005050

c.G1269A

p.T423T

8.351

Fu2022 E
Trost2022 G
Zhou2022 GE

ABCD4

mAGRE2751

chr14:
74763050-74763050

G

T

exonic

Paternal

stopgain

NM_005050

c.C528A

p.Y176X

17.8

Cirnigliaro2023 G

ABCD4

SP0085522

chr14:
74756662-74756662

G

A

intronic

De novo

-

-

Fu2022 E
Trost2022 G

ABCD4

PN400343

chr14:
74753420-74753420

C

T

exonic

Unknown

nonsynonymous SNV

NM_005050

c.G1736A

p.R579Q

36.0

Leblond2019 E

ABCD4

08C78789

chr14:
74759259-74759259

C

T

exonic

De novo

synonymous SNV

NM_005050

c.G1023A

p.T341T

-

DeRubeis2014 E
Kosmicki2017 E

ABCD4

iHART2751

chr14:
74763050-74763050

G

T

exonic

Paternal

stopgain

NM_005050

c.C528A

p.Y176X

17.8

Ruzzo2019 G

ABCD4

2-1323-003

chr14:
74793586-74793586

G

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

ABCD4

4-0073-003

chr14:
74756270-74756270

C

G

intronic

De novo

-

Trost2022 G

ABCD4

1-0354-006

chr14:
74756270-74756270

C

G

intronic

De novo

-

Trost2022 G

ABCD4

4-0077-003

chr14:
74756266-74756266

A

G

intronic

De novo

-

-

Trost2022 G

ABCD4

4-0054-003

chr14:
74756270-74756270

C

G

intronic

De novo

-

Trost2022 G

ABCD4

4-0062-003

chr14:
74756266-74756266

A

G

intronic

De novo

-

-

Trost2022 G

ABCD4

4-0073-003

chr14:
74756266-74756266

A

G

intronic

De novo

-

-

Trost2022 G

ABCD4

4-0054-003

chr14:
74756266-74756266

A

G

intronic

De novo

-

-

Trost2022 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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