Variant Results

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Results for "IGFN1"

Variant Events: 13

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

IGFN1

1-0547-003

chr1:
201232989-201232989

G

A

intergenic

De novo

-

-

Yuen2017 G

IGFN1

AU3907301

chr1:
201178009-201178009

G

T

exonic

De novo

nonsynonymous SNV

NM_001164586

c.G3988T

p.A1330S

10.75

-

Yuen2017 G
Zhou2022 GE

IGFN1

1-0526-003

chr1:
201171234-201171234

G

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

IGFN1

Lim2017:78715

chr1:
201178796-201178796

G

T

exonic

De novo

nonsynonymous SNV

NM_001164586

c.G4775T

p.G1592V

10.75

-

Lim2017 E

IGFN1

2-1376-003

chr1:
201217976-201217976

C

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

IGFN1

AU4315302

chr1:
201202398-201202398

A

T

intergenic

De novo

-

-

Yuen2017 G

IGFN1

1-0898-003

chr1:
201209271-201209271

C

T

intergenic

De novo

-

-

Yuen2017 G

IGFN1

AU4344301

chr1:
201227636-201227636

A

G

intergenic

De novo

-

-

Yuen2017 G

IGFN1

1-0664-003A

chr1:
201192636-201192636

T

C

intronic

De novo

-

-

Trost2022 G

IGFN1

1-0171-005

chr1:
201249447-201249447

G

A

intergenic

De novo

-

-

Yuen2017 G

IGFN1

1450_15au

chr1:
201179929-201179929

A

G

exonic

De novo

nonsynonymous SNV

NM_001164586

c.A5908G

p.K1970E

2.902

-

Fu2022 E

IGFN1

SJD_50

chr1:
201190758-201190758

C

T

exonic

Paternal

nonsynonymous SNV

NM_001164586

c.C10085T

p.T3362M

18.43

Toma2013 E

IGFN1

SP0063700

chr1:
201196090-201196090

C

G

exonic

De novo

nonsynonymous SNV

NM_001164586

c.C10867G

p.H3623D

17.3

-

Fu2022 E
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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