Variant Results

or

Results for "INTS1"

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

INTS1

7-0253-004

chr7:
1518999-1518999

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

INTS1

G01-GEA-239-HI

chr7:
1539066-1539066

G

C

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

INTS1

DEASD_1053_001

chr7:
1512023-1512023

C

G

splicing

De novo

splicing

12.21

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

INTS1

2-1336-004

chr7:
1528922-1528923

GA

TGCGC

intronic

De novo

-

Trost2022 G

INTS1

UK10K_SKUSE5080191

chr7:
1542695-1542695

G

A

exonic

De novo

nonsynonymous SNV

NM_001080453

c.C191T

p.A64V

13.12

1.667E-5

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

INTS1

ASDFI_1477

chr7:
1542787-1542788

CT

C

exonic

De novo

frameshift deletion

NM_001080453

c.98delA

p.K33fs

-

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

INTS1

iHART1606

chr7:
1539585-1539587

GCA

G

exonic

Maternal

frameshift deletion

NM_001080453

c.617_618del

p.V206fs

-

Ruzzo2019 G

INTS1

Wang2023:817

chr7:
1511206-1511206

C

A

splicing

De novo

splicing

12.43

8.393E-6

Wang2023 E

INTS1

1-0158-012

chr7:
1519141-1519141

G

A

exonic

De novo

synonymous SNV

NM_001080453

c.C4254T

p.G1418G

-

0.004

Trost2022 G
Yuen2017 G

INTS1

mAGRE1606

chr7:
1539585-1539587

GCA

G

exonic

Maternal

frameshift deletion

NM_001080453

c.617_618del

p.V206fs

-

Cirnigliaro2023 G

INTS1

2-1336-004

chr7:
1528926-1528930

GAGAC

TCACTT

intronic

De novo

-

Trost2022 G

INTS1

mAGRE4436

chr7:
1523618-1523644

CGTAGACCTCCTCGCCCTCACCCAGCT

C

exonic

Paternal

nonframeshift deletion

NM_001080453

c.3424_3429del

p.1142_1143del

-

1.712E-5

Cirnigliaro2023 G

INTS1

3-0346-000

chr7:
1536391-1536391

C

T

intronic

De novo

-

Trost2022 G

INTS1

mAGRE4435

chr7:
1523618-1523644

CGTAGACCTCCTCGCCCTCACCCAGCT

C

exonic

Paternal

nonframeshift deletion

NM_001080453

c.3424_3429del

p.1142_1143del

-

1.712E-5

Cirnigliaro2023 G

INTS1

2-1280-003

chr7:
1547988-1547988

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

INTS1

2-1408-003

chr7:
1518676-1518676

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

INTS1

05C48743

chr7:
1516523-1516523

C

T

exonic

De novo

nonsynonymous SNV

NM_001080453

c.G4970A

p.R1657H

17.67

8.254E-5

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

INTS1

SMHC00817s000

chr7:
1511206-1511206

C

A

splicing

De novo

splicing

12.43

8.393E-6

Yuan2023 E

INTS1

2-1245-003

chr7:
1568455-1568455

A

T

intergenic

De novo

-

Yuen2017 G

INTS1

SP0124694

chr7:
1513249-1513249

A

G

exonic

De novo

synonymous SNV

NM_001080453

c.T5910C

p.N1970N

-

1.109E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

INTS1

SP0066842

chr7:
1511982-1511982

G

A

exonic

De novo

synonymous SNV

NM_001080453

c.C6111T

p.S2037S

-

Fu2022 E
Trost2022 G
Zhou2022 GE

INTS1

CC1123.202

chr7:
1524698-1524698

C

CCAGGGCCACACTGCCGGCTGGCCCCGTCCCCTCCG

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

INTS1

SP0070682

chr7:
1543491-1543491

A

C

intronic

De novo

-

Fu2022 E

INTS1

SP0094395

chr7:
1538438-1538438

G

A

exonic

De novo

synonymous SNV

NM_001080453

c.C1188T

p.N396N

-

Fu2022 E
Trost2022 G
Zhou2022 GE

INTS1

SP0125553

chr7:
1517188-1517188

T

C

exonic

De novo

nonsynonymous SNV

NM_001080453

c.A4936G

p.K1646E

8.888

-

Fu2022 E
Zhou2022 GE

INTS1

SP0068363

chr7:
1512004-1512004

G

A

exonic

De novo

nonsynonymous SNV

NM_001080453

c.C6089T

p.S2030F

18.01

-

Fu2022 E
Zhou2022 GE

INTS1

12068.p1

chr7:
1538112-1538112

C

A

exonic

nonsynonymous SNV

NM_001080453

c.G1361T

p.R454L

19.98

-

Zhou2022 GE

INTS1

111299

chr7:
1510817-1510817

C

T

exonic

nonsynonymous SNV

NM_001080453

c.G6299A

p.R2100H

37.0

-

Woodbury-Smith2022 E

INTS1

NDAR_INVCW452LNC_wes1

chr7:
1523633-1523633

C

T

intronic

De novo

-

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

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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