Variant Results

or

Results for "FSIP1"

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

FSIP1

AU2569301

chr15:
39935397-39935398

GA

G

intronic

De novo

-

Yuen2017 G

FSIP1

4-0064-003

chr15:
39918421-39918421

T

C

intronic

De novo

-

Trost2022 G

FSIP1

1-1195-003

chr15:
39924191-39924191

T

C

intronic

De novo

-

Trost2022 G

FSIP1

3-0346-000

chr15:
39909235-39909235

C

T

intronic

De novo

-

Trost2022 G

FSIP1

2-1417-003

chr15:
40033848-40033848

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FSIP1

3-0467-000

chr15:
40037954-40037954

G

A

intronic

De novo

-

Trost2022 G

FSIP1

SJD_63.3

chr15:
40038201-40038201

G

A

intronic

De novo

-

Trost2022 G

FSIP1

MT_184.3

chr15:
39973124-39973124

C

G

intronic

De novo

-

Trost2022 G

FSIP1

NDAR_INVGW395LFN_wes1

chr15:
39893167-39893167

G

A

intronic

De novo

-

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

FSIP1

MSSNG00327-003

chr15:
40018043-40018043

C

T

intronic

De novo

-

Trost2022 G

FSIP1

7-0333-003

chr15:
39948695-39948695

G

A

intronic

De novo

-

Trost2022 G

FSIP1

2-1491-003

chr15:
39948982-39948982

A

G

intronic

De novo

-

Trost2022 G

FSIP1

MT_168.3

chr15:
39936485-39936485

G

A

intronic

De novo

-

Trost2022 G

FSIP1

F10161-1

chr15:
40062797-40062797

G

T

exonic

De novo

nonsynonymous SNV

NM_152597

c.C141A

p.S47R

11.92

-

Fu2022 E

FSIP1

5-0066-003

chr15:
39939061-39939065

TATAC

T

intronic

De novo

-

Trost2022 G

FSIP1

2-1129-003

chr15:
40030406-40030406

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G
Zhou2022 GE

FSIP1

MSSNG00343-003

chr15:
40042972-40042973

GC

G

intronic

De novo

-

Trost2022 G

FSIP1

4-0084-003

chr15:
40049373-40049373

A

C

intronic

De novo

-

Trost2022 G

FSIP1

MT_6.3

chr15:
40018879-40018879

C

A

exonic

De novo

nonsynonymous SNV

NM_152597

c.G961T

p.A321S

15.49

-

Trost2022 G
Zhou2022 GE

FSIP1

AU3846302

chr15:
40056058-40056059

AT

A

exonic

Paternal

frameshift deletion

NM_152597

c.522delA

p.K174fs

-

2.517E-5

Cirnigliaro2023 G

FSIP1

AU3051302

chr15:
39909979-39909979

T

TCAC

exonic

Maternal

stopgain

NM_152597

c.1655_1656insGTG

p.E552delinsEX

-

Cirnigliaro2023 G

FSIP1

iHART3201

chr15:
40056058-40056059

AT

A

exonic

Paternal

frameshift deletion

NM_152597

c.522delA

p.K174fs

-

2.517E-5

Ruzzo2019 G

FSIP1

AU1987301

chr15:
40011709-40011709

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

FSIP1

iHART3050

chr15:
39909979-39909979

T

TCAC

exonic

Maternal

stopgain

NM_152597

c.1655_1656insGTG

p.E552delinsEX

-

Ruzzo2019 G

FSIP1

2-1718-003

chr15:
40000184-40000184

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FSIP1

3-0391-000

chr15:
40066885-40066885

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

FSIP1

AU3861303

chr15:
39904656-39904656

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FSIP1

2-1268-003

chr15:
39963660-39963660

T

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

FSIP1

7-0055-003

Complex Event; expand row to view variants

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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