Variant Results

or

Results for "GBF1"

Variant Events: 24

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

GBF1

7-0254-004

chr10:
104010132-104010132

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

GBF1

5-5163-003

chr10:
104054620-104054620

A

G

intronic

De novo

-

Trost2022 G

GBF1

08C74627

chr10:
104130496-104130496

G

A

exonic

De novo

nonsynonymous SNV

NM_001199378
NM_001199379
NM_004193

c.G3539A
c.G3536A
c.G3536A

p.R1180Q
p.R1179Q
p.R1179Q

26.1

5.767E-5

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

GBF1

AM01ZF-03

chr10:
104063855-104063855

T

A

intronic

De novo

-

Trost2022 G

GBF1

2-1365-003

chr10:
104115728-104115728

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

GBF1

SMHC02030s000

chr10:
104136449-104136449

G

A

exonic

De novo

nonsynonymous SNV

NM_001199378
NM_001199379
NM_004193

c.G4180A
c.G4177A
c.G4177A

p.V1394M
p.V1393M
p.V1393M

25.9

8.261E-6

Yuan2023 E

GBF1

AC02-1177-01

chr10:
104123570-104123570

T

C

intronic

De novo

-

8.0E-4

Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

GBF1

5-5035-003

chr10:
104133845-104133845

A

AGCCTGTAAT

intronic

De novo

-

Trost2022 G

GBF1

AU4237304

chr10:
104041844-104041844

C

T

intronic

De novo

-

Yuen2017 G

GBF1

SP0040514

chr10:
104128584-104128584

A

T

exonic

De novo

nonsynonymous SNV

NM_001199378
NM_001199379
NM_004193

c.A2968T
c.A2965T
c.A2965T

p.S990C
p.S989C
p.S989C

19.58

-

Trost2022 G

GBF1

2-1239-003

chr10:
104091869-104091869

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

GBF1

5-5035-003

chr10:
104133843-104133843

A

C

intronic

De novo

-

Trost2022 G

GBF1

MSSNG00374-003

chr10:
104112979-104112979

C

A

intronic

De novo

-

Trost2022 G

GBF1

SP0040514

Complex Event; expand row to view variants

De novo

nonsynonymous SNV, synonymous SNV

NM_001199378
NM_001199379
NM_004193
NM_001199378
NM_001199379
NM_004193

c.T2963A
c.T2960A
c.T2960A
c.C2964G
c.C2961G
c.C2961G

p.L988H
p.L987H
p.L987H
p.L988L
p.L987L
p.L987L

21.9

-

Trost2022 G
Trost2022 G

GBF1

MSSNG00427-003

chr10:
104104993-104104993

C

T

intronic

De novo

-

Trost2022 G

GBF1

MSSNG00255-003

chr10:
104110221-104110221

A

G

intronic

De novo

-

Trost2022 G

GBF1

4176_18au

chr10:
104019792-104019792

C

T

intronic

De novo

-

Fu2022 E

GBF1

2-0007-003

chr10:
104140360-104140360

C

T

exonic

De novo

nonsynonymous SNV

NM_001199378
NM_001199379
NM_004193

c.C5078T
c.C5075T
c.C5087T

p.A1693V
p.A1692V
p.A1696V

13.93

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

GBF1

3-0005-000

chr10:
104129511-104129511

G

A

exonic

De novo

nonsynonymous SNV

NM_001199378
NM_001199379
NM_004193

c.G3194A
c.G3191A
c.G3191A

p.R1065Q
p.R1064Q
p.R1064Q

25.7

2.472E-5

Tammimies2015 E
Trost2022 G
Zhou2022 GE

GBF1

2-1594-003

chr10:
104133080-104133080

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

GBF1

SP0040514

chr10:
104128588-104128588

A

AATTT

exonic

De novo

frameshift insertion

NM_001199378
NM_001199379
NM_004193

c.2972_2973insATTT
c.2969_2970insATTT
c.2969_2970insATTT

p.E991fs
p.E990fs
p.E990fs

-

Fu2022 E

GBF1

SP0066343

chr10:
104141073-104141073

G

T

intronic

De novo

-

Fu2022 E

GBF1

AU2293301

chr10:
104082053-104082053

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

GBF1

SP0050912

chr10:
104120208-104120208

A

G

intronic

De novo

-

Fu2022 E

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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