Variant Results

or

or

Results for "INSR"

Variant Events: 26

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

INSR

1-0534-004

chr19:
7431716-7431716

A

G

intergenic

De novo

-

-

Yuen2017 G

INSR

14590.p1

chr19:
7170089-7170089

G

A

intronic

De novo

-

-

Turner2016 G

INSR

1-0572-003

chr19:
7458084-7458084

A

G

intergenic

De novo

-

-

Yuen2017 G

INSR

2-0182-003

chr19:
7169444-7169444

G

A

intronic

De novo

-

-

Yuen2017 G

INSR

SSC12779

chr19:
7184382-7184382

G

T

exonic

De novo

nonsynonymous SNV

NM_000208
NM_001079817

c.C919A
c.C919A

p.H307N
p.H307N

17.69

-

Fu2022 E
Lim2017 E

INSR

AU039304

chr19:
7262961-7262961

G

T

intronic

De novo

-

-

Yuen2017 G

INSR

2-1245-003

chr19:
7400333-7400333

A

C

intergenic

De novo

-

-

Yuen2017 G

INSR

AU2248301

chr19:
7238152-7238152

C

T

intronic

De novo

-

-

Yuen2017 G

INSR

1-0225-003

chr19:
7276992-7276992

T

C

intronic

De novo

-

-

Yuen2017 G

INSR

SP0016289

chr19:
7122734-7122734

C

T

exonic

De novo

synonymous SNV

NM_001079817
NM_000208

c.G3384A
c.G3420A

p.A1128A
p.A1140A

-

Fu2022 E

INSR

13826.p1

chr19:
7119480-7119480

G

A

exonic

De novo

synonymous SNV

NM_001079817
NM_000208

c.C3738T
c.C3774T

p.P1246P
p.P1258P

-

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

INSR

SP0127452

chr19:
7170511-7170512

TC

T

intronic

De novo

-

-

Fu2022 E

INSR

14679.p1

chr19:
7184382-7184382

G

T

exonic

De novo

nonsynonymous SNV

NM_000208
NM_001079817

c.C919A
c.C919A

p.H307N
p.H307N

17.69

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

INSR

1-0585-003

chr19:
7276193-7276193

G

T

intronic

De novo

-

-

Yuen2017 G

INSR

DEASD_1007_001

chr19:
7174751-7174751

G

A

intronic

De novo

-

Satterstrom2020 E

INSR

1-0279-004

chr19:
7196067-7196067

C

T

intronic

De novo

-

-

Yuen2017 G

INSR

2-0299-005

chr19:
7188284-7188284

C

T

intronic

De novo

-

-

Yuen2017 G

INSR

21740-34579

chr19:
7172377-7172377

G

A

exonic

Inherited

nonsynonymous SNV

NM_000208
NM_001079817

c.C1192T
c.C1192T

p.R398C
p.R398C

19.56

-

Callaghan2019 G

INSR

1-0526-003

chr19:
7449604-7449604

G

GTC

intergenic

De novo

-

-

Yuen2017 G

INSR

1-0417-003

chr19:
7151720-7151720

A

G

intronic

De novo

-

-

Yuen2017 G

INSR

AU2293301

chr19:
7122131-7122131

C

CAACA

intronic

De novo

-

-

Yuen2017 G

INSR

AU1542301

chr19:
7238030-7238030

G

C

intronic

De novo

-

-

Yuen2017 G

INSR

1-0490-003

chr19:
7174755-7174768

CAGAGAGAGAGAGA

CAGAGAGAGAGA

intronic

De novo

-

-

Yuen2017 G

INSR

2-1264-003

chr19:
7157136-7157136

C

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

INSR

1876-23644

chr19:
7267787-7267787

C

A

exonic

nonsynonymous SNV

NM_000208
NM_001079817

c.G221T
c.G221T

p.R74L
p.R74L

19.11

-

Callaghan2019 G

INSR

AU4033303

chr19:
7247632-7247632

G

A

intronic

De novo

-

-

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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