Variant Results

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Results for "LTA4H"

Variant Events: 14

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

LTA4H

1-0820-003

chr12:
96573771-96573771

A

C

intergenic

De novo

-

-

Yuen2017 G

LTA4H

iHART1440

chr12:
96402879-96402879

C

T

exonic

Paternal

stopgain

NM_000895
NM_001256643
NM_001256644

c.G1427A
c.G1355A
c.G1355A

p.W476X
p.W452X
p.W452X

39.0

-

Ruzzo2019 G

LTA4H

AU2100302

chr12:
96448938-96448938

C

G

intergenic

De novo

-

-

Yuen2017 G

LTA4H

AU3371303

chr12:
96526932-96526932

T

C

intergenic

De novo

-

-

Yuen2017 G

LTA4H

AU1848302

chr12:
96519724-96519724

A

G

intergenic

De novo

-

-

Yuen2017 G

LTA4H

2-0116-005

chr12:
96521543-96521543

T

C

intergenic

De novo

-

-

Yuen2017 G

LTA4H

Codina-Sola2015:ASD_34

chr12:
96394778-96394778

T

TTAAG

exonic

Paternal

frameshift insertion

NM_000895
NM_001256643

c.1824_1825insCTTA
c.1752_1753insCTTA

p.K609fs
p.K585fs

-

-

Codina-Sola2015 E

LTA4H

7-0251-003

chr12:
96393970-96393970

G

A

downstream

De novo

-

-

Yuen2017 G

LTA4H

AU3912302

chr12:
96540852-96540852

G

A

intergenic

De novo

-

-

Yuen2017 G

LTA4H

1-0985-003

chr12:
96561410-96561410

A

G

intergenic

De novo

-

-

Yuen2017 G

LTA4H

AU4336301

chr12:
96585179-96585179

T

C

intergenic

De novo

-

-

Yuen2017 G

LTA4H

AU3807302

chr12:
96442827-96442827

G

A

intergenic

De novo

-

-

Yuen2017 G

LTA4H

1-0141-003

chr12:
96513591-96513592

GA

G

intergenic

De novo

-

-

Yuen2017 G

LTA4H

2-1456-004

chr12:
96562931-96562931

T

C

intergenic

De 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 notes	View
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