Variant Results

or

or

Results for "SGIP1"

Variant Events: 28

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

SGIP1

10C109647

chr1:
67154953-67154953

G

A

exonic

De novo

nonsynonymous SNV

NM_001308203
NM_032291

c.G841A
c.G1438A

p.D281N
p.D480N

35.0

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SGIP1

SP0112671

chr1:
67145465-67145465

G

A

intronic

De novo

-

-

Fu2022 E

SGIP1

SP0109961

chr1:
67109430-67109430

C

T

intronic

De novo

-

-

Fu2022 E

SGIP1

11879-1

chr1:
67000042-67000042

A

G

exonic

De novo

nonsynonymous SNV

NM_032291
NM_001308203

c.A1G
c.A1G

p.M1V
p.M1V

6.853

Fu2022 E

SGIP1

1-0120-003

chr1:
67129197-67129197

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SGIP1

AU072004

chr1:
67211128-67211128

G

T

UTR3

De novo

-

-

Trost2022 G
Yuen2017 G

SGIP1

3-0610-000

chr1:
67147603-67147603

A

G

exonic

De novo

nonsynonymous SNV

NM_032291

c.A866G

p.N289S

7.309

-

Trost2022 G
Zhou2022 GE

SGIP1

7-0102-003

chr1:
67199956-67199956

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SGIP1

MSSNG00124-003

chr1:
67086461-67086462

AG

A

intronic

De novo

-

-

Trost2022 G

SGIP1

AU003406

chr1:
67071373-67071373

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SGIP1

MSSNG00242-003

chr1:
67033398-67033398

T

C

intronic

De novo

-

-

Trost2022 G

SGIP1

7-0335-003

chr1:
67100492-67100492

T

G

intronic

De novo

-

-

Trost2022 G

SGIP1

MSSNG00410-003

chr1:
67096770-67096770

G

A

intronic

De novo

-

-

Trost2022 G

SGIP1

1-0738-003

chr1:
67019689-67019689

A

C

intronic

De novo

-

-

Trost2022 G

SGIP1

AU047704

chr1:
67144949-67144949

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SGIP1

2-1790-003

chr1:
67180499-67180499

T

C

intronic

De novo

-

-

Trost2022 G

SGIP1

7-0452-003

chr1:
67174756-67174756

G

A

intronic

De novo

-

-

Trost2022 G

SGIP1

1-1116-003

chr1:
67190876-67190876

C

T

intronic

De novo

-

-

Trost2022 G

SGIP1

A30

chr1:
67043659-67043659

T

C

intronic

De novo

-

-

Wu2018 G

SGIP1

1-0859-003

chr1:
67190054-67190054

C

T

intronic

De novo

-

-

Trost2022 G

SGIP1

2-0012-004

chr1:
67137131-67137133

CAC

GGTT

intronic

De novo

-

-

Trost2022 G

SGIP1

5-1006-003

chr1:
67123950-67123950

A

G

intronic

De novo

-

-

Trost2022 G

SGIP1

SP0079608

chr1:
67160960-67160960

G

T

intronic

De novo

-

-

Trost2022 G

SGIP1

1-0568-003

chr1:
67144065-67144066

TG

AT

intronic

De novo

-

-

Trost2022 G

SGIP1

1-0640-003

Complex Event; expand row to view variants

De novo

-

-

Trost2022 G
Yuen2017 G

SGIP1

AU4093302

chr1:
67050846-67050846

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SGIP1

REACH000194

chr1:
67212918-67212918

A

G

UTR3

De novo

-

-

Trost2022 G

SGIP1

AU2828301

chr1:
67206225-67206225

A

G

intronic

De novo

-

-

Trost2022 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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