Variant Results

or

or

Results for "GPBP1"

Variant Events: 19

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

GPBP1

1-0025-006

chr5:
56527569-56527569

T

C

intronic

De novo

-

-

Yuen2017 G

GPBP1

2-1509-003

chr5:
56528945-56528945

G

A

intronic

De novo

-

-

Yuen2017 G

GPBP1

1-0387-003

chr5:
56575921-56575921

A

C

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

GPBP1

2-0102-004

chr5:
56701639-56701639

A

G

intergenic

De novo

-

-

Yuen2017 G

GPBP1

12139.p1

chr5:
56545306-56545306

G

A

exonic

De novo

nonsynonymous SNV

NM_001127236
NM_001203246
NM_001127235
NM_022913

c.G896A
c.G362A
c.G851A
c.G875A

p.R299Q
p.R121Q
p.R284Q
p.R292Q

23.6

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

GPBP1

1397_17au

chr5:
56471219-56471219

A

AT

intronic

De novo

-

-

Fu2022 E

GPBP1

7-0194-003

chr5:
56699578-56699578

A

C

intergenic

De novo

-

-

Yuen2017 G

GPBP1

2-1460-003

chr5:
56518755-56518755

G

C

intronic

De novo

-

-

Yuen2017 G

GPBP1

AU2988302

chr5:
56748437-56748437

T

A

intergenic

De novo

-

-

Yuen2017 G

GPBP1

5-0111-003

chr5:
56771873-56771873

A

G

intergenic

De novo

-

-

Yuen2017 G

GPBP1

AU2988303

chr5:
56748437-56748437

T

A

intergenic

De novo

-

-

Yuen2017 G

GPBP1

1-0329-004

chr5:
56733914-56733914

G

C

intergenic

De novo

-

-

Yuen2017 G

GPBP1

1-0455-004

chr5:
56489418-56489418

G

GCA

intronic

De novo

-

-

Yuen2017 G

GPBP1

1-0763-003

chr5:
56627595-56627595

A

T

intergenic

De novo

-

-

Yuen2017 G

GPBP1

1-0632-003

chr5:
56473154-56473154

T

TTAA

intronic

De novo

-

-

Yuen2017 G

GPBP1

ASC_CA_194_A

chr5:
56542180-56542180

G

GGT

exonic

De novo

frameshift insertion

NM_001127236
NM_001203246
NM_001127235
NM_022913

c.553_554insGT
c.19_20insGT
c.553_554insGT
c.532_533insGT

p.G185fs
p.G7fs
p.G185fs
p.G178fs

-

-

Satterstrom2020 E

GPBP1

SP0031595

chr5:
56542308-56542308

A

C

exonic

De novo

synonymous SNV

NM_001127236
NM_001203246
NM_001127235
NM_022913

c.A681C
c.A147C
c.A681C
c.A660C

p.T227T
p.T49T
p.T227T
p.T220T

-

-

Fu2022 E

GPBP1

SSC04534

chr5:
56545306-56545306

G

A

exonic

De novo

nonsynonymous SNV

NM_001127236
NM_001203246
NM_001127235
NM_022913

c.G896A
c.G362A
c.G851A
c.G875A

p.R299Q
p.R121Q
p.R284Q
p.R292Q

23.6

-

Fu2022 E
Lim2017 E

GPBP1

2-1475-003

chr5:
56596958-56596963

TGGGGG

TGGGG

intergenic

De novo

-

-

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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