Variant Results

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Results for "TRANK1"

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

TRANK1

iHART2921

chr3:
36937214-36937215

AG

A

exonic

Maternal

frameshift deletion

NM_014831

c.336delC

p.C112fs

-

-

Ruzzo2019 G

TRANK1

SP0031757

chr3:
36934387-36934387

C

A

intronic

De novo

-

-

Fu2022 E

TRANK1

SP0104693

chr3:
36896719-36896719

A

G

exonic

De novo

synonymous SNV

NM_014831

c.T4362C

p.A1454A

-

Fu2022 E

TRANK1

11456.p1

Complex Event; expand row to view variants

De novo

-

-

Turner2016 G
Turner2016 G

TRANK1

AU3885305

chr3:
36911568-36911568

T

C

intronic

De novo

-

-

Yuen2017 G

TRANK1

SP0024517

chr3:
36915689-36915689

T

C

exonic

De novo

nonsynonymous SNV

NM_014831

c.A874G

p.K292E

18.91

-

Fu2022 E

TRANK1

SP0078455

chr3:
36896916-36896916

C

T

exonic

De novo

nonsynonymous SNV

NM_014831

c.G4165A

p.E1389K

21.9

Fu2022 E

TRANK1

1-0901-003

chr3:
37025879-37025882

AGAG

A

intergenic

De novo

-

-

Yuen2017 G

TRANK1

2-1371-003

chr3:
36886954-36886954

C

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

TRANK1

2-1105-003

chr3:
36918711-36918711

C

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

TRANK1

A1443B

chr3:
36898930-36898930

C

A

exonic

De novo

nonsynonymous SNV

NM_014831

c.G2151T

p.E717D

12.66

-

Fu2022 E

TRANK1

AU3729301

chr3:
36871174-36871174

G

A

intronic

De novo

-

-

Yuen2017 G

TRANK1

iHART1625

chr3:
36896978-36896978

T

A

exonic

De novo

nonsynonymous SNV

NM_014831

c.A4103T

p.D1368V

18.04

-

Ruzzo2019 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
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