Variant Results

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or

Results for "GTPBP1"

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

GTPBP1

3-0612-000

chr22:
39112937-39112937

C

T

exonic

De novo

nonsynonymous SNV

NM_004286

c.C766T

p.H256Y

28.2

-

Trost2022 G
Zhou2022 GE

GTPBP1

7-0469-003

chr22:
39121749-39121749

A

G

intronic

De novo

-

-

Trost2022 G

GTPBP1

3-0466-000A

chr22:
39114149-39114149

A

G

intronic

De novo

-

-

Trost2022 G

GTPBP1

1-1183-003

chr22:
39107796-39107796

T

C

intronic

De novo

-

-

Trost2022 G

GTPBP1

PN400104

chr22:
39124008-39124008

C

A

exonic

Unknown

nonsynonymous SNV

NM_004286

c.C1558A

p.Q520K

34.0

Leblond2019 E

GTPBP1

PN400534

chr22:
39124047-39124047

C

T

exonic

Unknown

nonsynonymous SNV

NM_004286

c.C1597T

p.R533C

34.0

-

Leblond2019 E

GTPBP1

PN400124

chr22:
39124008-39124008

C

A

exonic

Unknown

nonsynonymous SNV

NM_004286

c.C1558A

p.Q520K

34.0

Leblond2019 E

GTPBP1

PN400548

chr22:
39124047-39124047

C

T

exonic

Unknown

nonsynonymous SNV

NM_004286

c.C1597T

p.R533C

34.0

-

Leblond2019 E

GTPBP1

2-1207-003

chr22:
39122641-39122641

C

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

GTPBP1

PN400137

chr22:
39124008-39124008

C

A

exonic

Unknown

nonsynonymous SNV

NM_004286

c.C1558A

p.Q520K

34.0

Leblond2019 E

GTPBP1

5-0033-004

chr22:
39114773-39114773

A

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GTPBP1

AU3692302

chr22:
39104456-39104456

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GTPBP1

AU075210

chr22:
39126190-39126190

G

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GTPBP1

PN400267

chr22:
39130330-39130330

C

A

downstream

Unknown

12.95

-

Leblond2019 E

GTPBP1

7-0123-003

chr22:
39106387-39106387

A

G

intronic

De novo

-

-

Trost2022 G
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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