Variant Results

or

Results for "ITSN1"

Variant Events: 45

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

ITSN1

5-5024-003

chr21:
35188227-35188227

C

T

intronic

De novo

-

Trost2022 G

ITSN1

042664323067-C

chr21:
35195957-35195957

G

A

exonic

De novo

synonymous SNV

NM_001001132
NM_003024

c.G3183A
c.G3183A

p.E1061E
p.E1061E

-

Fu2022 E

ITSN1

10-0008-003

chr21:
35165354-35165354

G

A

intronic

De novo

-

Trost2022 G

ITSN1

SP0249708

chr21:
35147320-35147320

C

T

exonic

stopgain

NM_001001132
NM_003024

c.C1504T
c.C1504T

p.R502X
p.R502X

39.0

-

Zhou2022 GE

ITSN1

2-1493-003

chr21:
35159389-35159389

G

A

intronic

De novo

-

Trost2022 G

ITSN1

AU076705

chr21:
35062187-35062187

C

T

intronic

De novo

-

Trost2022 G

ITSN1

Viggiano2022:105.3

chr21:
35169783-35169783

G

A

exonic

Maternal

nonsynonymous SNV

NM_001001132
NM_003024

c.G2053A
c.G2053A

p.E685K
p.E685K

15.88

8.237E-6

Viggiano2022 GT

ITSN1

2-0139-004

chr21:
35033917-35033917

T

A

intronic

De novo

-

Trost2022 G

ITSN1

SP0011605

chr21:
35258555-35258555

T

G

intronic

De novo

-

Fu2022 E

ITSN1

3-0360-000

chr21:
35022873-35022873

C

G

intronic

De novo

-

Trost2022 G

ITSN1

1-0252-003

chr21:
35235832-35235832

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITSN1

2-1811-003

chr21:
35231440-35231440

C

G

intronic

De novo

-

Trost2022 G

ITSN1

1-1063-004

chr21:
35230596-35230596

G

C

intronic

De novo

-

Trost2022 G

ITSN1

3-0116-001

chr21:
35224837-35224838

GT

G

intronic

De novo

-

Trost2022 G

ITSN1

2-0142-003

chr21:
35260516-35260516

G

GC

exonic

De novo

frameshift insertion

NM_003024

c.5078_5079insC

p.G1693fs

-

Trost2022 G
Yuen2015 G

ITSN1

MSSNG00421-008

chr21:
35215695-35215695

C

T

intronic

De novo

-

Trost2022 G

ITSN1

SP0055066

chr21:
35209723-35209723

G

A

UTR3

De novo

-

Trost2022 G

ITSN1

AU009904

chr21:
35204387-35204387

C

T

intronic

De novo

-

Trost2022 G

ITSN1

7-0462-003

chr21:
35200119-35200119

A

G

intronic

De novo

-

Trost2022 G

ITSN1

MT_20.3

chr21:
35190155-35190155

A

G

intronic

De novo

-

Trost2022 G

ITSN1

1-0627-007

chr21:
35252167-35252167

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITSN1

5-0123-003

chr21:
35267962-35267962

T

C

intergenic

De novo

-

Trost2022 G

ITSN1

SP0005166

chr21:
35144452-35144452

G

A

exonic

De novo

nonsynonymous SNV

NM_001001132
NM_003024

c.G1130A
c.G1130A

p.R377H
p.R377H

28.2

1.655E-5

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

ITSN1

MT_38.3

chr21:
35267831-35267831

G

A

intergenic

De novo

-

Trost2022 G

ITSN1

7-0068-003

chr21:
35267831-35267831

G

A

intergenic

De novo

-

Trost2022 G

ITSN1

1-0155-003

chr21:
35149994-35149994

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITSN1

1-0969-003

chr21:
35045772-35045772

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITSN1

7-0094-004

chr21:
35244834-35244834

A

C

intronic

De novo

-

Trost2022 G

ITSN1

2-1764-004

chr21:
35241286-35241286

A

G

intronic

De novo

-

Trost2022 G

ITSN1

2-1722-003

chr21:
35190684-35190686

CAT

C

exonic

De novo

frameshift deletion

NM_001001132
NM_003024

c.2842_2843del
c.2842_2843del

p.M948fs
p.M948fs

-

8.236E-6

Trost2022 G
Yuen2017 G
Zhou2022 GE

ITSN1

SP0034437

chr21:
35107462-35107463

CT

C

exonic

De novo

frameshift deletion

NM_001001132
NM_003024

c.300delT
c.300delT

p.P100fs
p.P100fs

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

ITSN1

2-0289-003

chr21:
35058935-35058935

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITSN1

AU3951301

chr21:
35077345-35077345

G

A

intronic

De novo

-

Yuen2017 G

ITSN1

12493.p1

chr21:
35272133-35272133

C

T

intergenic

De novo

-

Turner2016 G

ITSN1

2-1426-003

chr21:
35245052-35245052

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITSN1

2-0307-003

chr21:
35117397-35117397

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITSN1

AU2433302

chr21:
35143482-35143482

T

C

intronic

De novo

-

Yuen2017 G

ITSN1

DEASD_0027_001

chr21:
35260537-35260537

T

G

exonic

De novo

nonsynonymous SNV

NM_003024

c.T5099G

p.L1700R

28.3

-

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

ITSN1

SP0007556

chr21:
35258603-35258603

C

T

exonic

De novo

nonsynonymous SNV

NM_003024

c.C4856T

p.P1619L

27.9

8.243E-6

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

ITSN1

2-1501-003

chr21:
35165737-35165737

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITSN1

AU2187301

chr21:
35201969-35201969

G

A

exonic

nonsynonymous SNV

NM_001001132
NM_003024

c.G3271A
c.G3271A

p.E1091K
p.E1091K

35.0

-

Zhou2022 GE

ITSN1

1-0375-003

chr21:
35266418-35266418

C

A

intergenic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ITSN1

iHART3007

chr21:
35140024-35140024

C

T

exonic

Maternal

stopgain

NM_001001132
NM_003024

c.C934T
c.C934T

p.R312X
p.R312X

40.0

-

Ruzzo2019 G

ITSN1

AU2863302

chr21:
35099805-35099805

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITSN1

AU2793302

chr21:
35140024-35140024

C

T

exonic

Maternal

stopgain

NM_001001132
NM_003024

c.C934T
c.C934T

p.R312X
p.R312X

40.0

-

Cirnigliaro2023 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
	More