Variant Results

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Results for "IGF2R"

Variant Events: 24

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

IGF2R

1-0629-003

chr6:
160538634-160538634

A

G

intergenic

De novo

-

-

Yuen2017 G

IGF2R

2-1525-003

chr6:
160504637-160504637

C

T

intronic

De novo

-

-

Yuen2017 G

IGF2R

iHART2284

chr6:
160485487-160485487

C

CG

exonic

Maternal

frameshift insertion

NM_000876

c.3942dupG

p.T1314fs

-

Ruzzo2019 G

IGF2R

iHART2285

chr6:
160485487-160485487

C

CG

exonic

Maternal

frameshift insertion

NM_000876

c.3942dupG

p.T1314fs

-

Ruzzo2019 G

IGF2R

NDAR_INVGE088ZLW_wes1

chr6:
160524825-160524825

A

G

exonic

De novo

nonsynonymous SNV

NM_000876

c.A7043G

p.N2348S

9.087

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E

IGF2R

SSC09979

chr6:
160497021-160497021

T

TGA

exonic

frameshift insertion

NM_000876

c.5309_5310insGA

p.V1770fs

-

-

Antaki2022 GE

IGF2R

2-1509-003

chr6:
160470409-160470409

T

G

intronic

De novo

-

-

Yuen2017 G

IGF2R

2-0043-003

chr6:
160499238-160499238

G

A

exonic

De novo

synonymous SNV

NM_000876

c.G5322A

p.T1774T

-

Yuen2016 G
Yuen2017 G

IGF2R

2-1350-004

chr6:
160401263-160401263

G

GA

intronic

De novo

-

-

Yuen2017 G

IGF2R

7-0012-003

chr6:
160445347-160445347

T

C

intronic

De novo

-

-

Yuen2017 G

IGF2R

2-1280-003

chr6:
160505792-160505792

G

A

intronic

De novo

-

-

Yuen2016 G

IGF2R

SP0139843

chr6:
160485466-160485466

G

C

exonic

De novo

nonsynonymous SNV

NM_000876

c.G3920C

p.G1307A

15.54

-

Fu2022 E

IGF2R

AU4250301

chr6:
160500662-160500662

C

T

exonic

De novo

synonymous SNV

NM_000876

c.C5529T

p.V1843V

-

Yuen2017 G

IGF2R

2-0223-004

chr6:
160431806-160431806

G

A

exonic

De novo

nonsynonymous SNV

NM_000876

c.G502A

p.A168T

22.7

Yuen2015 G
Yuen2017 G

IGF2R

SP0051441

chr6:
160492966-160492966

G

A

exonic

De novo

nonsynonymous SNV

NM_000876

c.G4468A

p.A1490T

22.8

Fu2022 E

IGF2R

2-1719-003

chr6:
160442637-160442647

TAAAAAAAAAA

TAAAAAA

intronic

De novo

-

-

Yuen2017 G

IGF2R

36002

chr6:
160445739-160445739

A

G

intronic

De novo

-

Fu2022 E

IGF2R

1-0296-004

chr6:
160401263-160401263

G

GA

intronic

De novo

-

-

Yuen2017 G

IGF2R

1-0357-003

chr6:
160420224-160420224

A

G

intronic

De novo

-

-

Yuen2017 G

IGF2R

13908.p1

chr6:
160497021-160497021

T

TGA

exonic

De novo

frameshift insertion

NM_000876

c.5309_5310insGA

p.V1770fs

-

-

Wilfert2021 G

IGF2R

1-0290-003

chr6:
160406023-160406023

G

A

intronic

De novo

-

-

Yuen2017 G

IGF2R

14016.p1

chr6:
160445739-160445739

A

G

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

IGF2R

13632.p1

chr6:
160471622-160471622

A

G

exonic

De novo

nonsynonymous SNV

NM_000876

c.A2632G

p.S878G

9.044

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

IGF2R

ASDFI_1029

chr6:
160485397-160485397

G

A

intronic

De novo

-

-

Satterstrom2020 E

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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