Variant Results

or

Results for "RAPGEF6"

Variant Events: 29

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

RAPGEF6

7-0002-003

chr5:
130827664-130827671

TTTTTTAT

GAAGCTG

intronic

De novo

-

Trost2022 G

RAPGEF6

5-5152-003

chr5:
130860887-130860887

C

A

intronic

De novo

-

Trost2022 G

RAPGEF6

SP0177727

chr5:
130799984-130799984

T

C

intronic

De novo

-

9.631E-6

Trost2022 G

RAPGEF6

7-0002-003

chr5:
130827654-130827658

GAGAA

G

intronic

De novo

-

Trost2022 G

RAPGEF6

3-0548-000

chr5:
130796597-130796597

G

A

intronic

De novo

-

Trost2022 G

RAPGEF6

2-1647-003

chr5:
130799031-130799055

GGAGGCTGAGGCAGGCAGATCACTT

G

intronic

De novo

-

Trost2022 G

RAPGEF6

AU3720302

chr5:
130962125-130962125

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

RAPGEF6

SP0125277

chr5:
130775231-130775231

T

C

intronic

De novo

-

3.379E-5

Trost2022 G

RAPGEF6

MSSNG00399-003

chr5:
130791944-130791946

TAC

T

intronic

De novo

-

Trost2022 G

RAPGEF6

MSSNG00158-003

chr5:
130947367-130947367

A

G

intronic

De novo

-

Trost2022 G

RAPGEF6

1-1035-003

chr5:
130966464-130966464

C

A

intronic

De novo

-

Trost2022 G

RAPGEF6

MSSNG00341-004

chr5:
130910853-130910853

C

T

intronic

De novo

-

Trost2022 G

RAPGEF6

AU3517302

chr5:
130811501-130811501

T

C

intronic

De novo

-

Yuen2017 G

RAPGEF6

7-0353-003

chr5:
130939744-130939745

TC

T

intronic

De novo

-

Trost2022 G

RAPGEF6

AU3885304

chr5:
130873769-130873769

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RAPGEF6

2-0012-004

chr5:
130900929-130900938

TTAGCAACAA

ATGGAG

intronic

De novo

-

Trost2022 G

RAPGEF6

1-0633-003

chr5:
130902639-130902639

T

C

intronic

De novo

-

Trost2022 G

RAPGEF6

2-1823-004

chr5:
130872600-130872600

G

A

intronic

De novo

-

Trost2022 G

RAPGEF6

2-0012-003

chr5:
130900929-130900938

TTAGCAACAA

ATGGAG

intronic

De novo

-

Trost2022 G

RAPGEF6

AU2427303

chr5:
130763087-130763087

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RAPGEF6

2-0144-003

chr5:
130899908-130899908

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

RAPGEF6

74-0752

chr5:
130771810-130771810

G

T

exonic

Inherited

nonsynonymous SNV

NM_001164389

c.C4010A

p.T1337K

14.64

-

Patowary2019 E

RAPGEF6

AU2569301

chr5:
130764649-130764649

G

A

exonic

Paternal

stopgain

NM_016340
NM_001164386

c.C4726T
c.C4750T

p.Q1576X
p.Q1584X

40.0

8.238E-6

Cirnigliaro2023 G

RAPGEF6

5-0117-003

chr5:
130824413-130824413

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RAPGEF6

2-1308-003

chr5:
130844603-130844603

C

T

intronic

De novo

-

Yuen2017 G

RAPGEF6

22106.p1

chr5:
130769160-130769160

C

T

exonic

nonsynonymous SNV

NM_016340
NM_001164386
NM_001164388
NM_001164387

c.G3937A
c.G3961A
c.G3961A
c.G3976A

p.A1313T
p.A1321T
p.A1321T
p.A1326T

6.257

5.768E-5

Zhou2022 GE

RAPGEF6

SJD_8.4

chr5:
130760193-130760193

G

A

UTR3

De novo

-

Trost2022 G

RAPGEF6

AU066404

chr5:
130817925-130817925

C

T

intronic

De novo

-

Yuen2017 G

RAPGEF6

AU3777302

chr5:
130824898-130824898

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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