Variant Results

or

Results for "IFIH1"

Variant Events: 23

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

IFIH1

13015.p1

chr2:
163174408-163174408

T

G

exonic

Mosaic, De novo

nonsynonymous SNV

NM_022168

c.A410C

p.K137T

12.72

-

Dou2017 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

IFIH1

SSC06323

chr2:
163174408-163174408

T

G

exonic

Mosaic, De novo

nonsynonymous SNV

NM_022168

c.A410C

p.K137T

12.72

-

Lim2017 E
Trost2022 G

IFIH1

1-0656-003

chr2:
163194941-163194941

C

T

intergenic

De novo

-

Trost2022 G
Yuen2017 G

IFIH1

mAGRE4936

chr2:
163133319-163133319

G

A

exonic

Maternal

stopgain

NM_022168

c.C2182T

p.R728X

42.0

5.771E-5

Cirnigliaro2023 G

IFIH1

iHART2956

chr2:
163144791-163144791

G

A

exonic

Paternal

stopgain

NM_022168

c.C949T

p.Q317X

39.0

4.132E-5

Ruzzo2019 G

IFIH1

SP0126138

chr2:
163133189-163133189

A

C

intronic

De novo

-

Fu2022 E

IFIH1

iHART2280

chr2:
163144671-163144671

C

A

exonic

Paternal

stopgain

NM_022168

c.G1069T

p.G357X

41.0

8.276E-6

Ruzzo2019 G

IFIH1

1-0627-005

chr2:
163177846-163177846

G

A

intergenic

De novo

-

Trost2022 G
Yuen2017 G

IFIH1

mAGRE2956

chr2:
163144791-163144791

G

A

exonic

Paternal

stopgain

NM_022168

c.C949T

p.Q317X

39.0

4.132E-5

Cirnigliaro2023 G

IFIH1

mAGRE2280

chr2:
163144671-163144671

C

A

exonic

Paternal

stopgain

NM_022168

c.G1069T

p.G357X

41.0

8.276E-6

Cirnigliaro2023 G

IFIH1

mAGRE4912

chr2:
163137836-163137836

A

C

splicing

Paternal

splicing

24.5

-

Cirnigliaro2023 G

IFIH1

mAGRE5036

chr2:
163133945-163133949

AATCT

A

exonic

Paternal

frameshift deletion

NM_022168

c.2020_2023del

p.R674fs

-

7.0E-4

Cirnigliaro2023 G

IFIH1

mAGRE2310

chr2:
163133945-163133949

AATCT

A

exonic

Paternal

frameshift deletion

NM_022168

c.2020_2023del

p.R674fs

-

7.0E-4

Cirnigliaro2023 G

IFIH1

2-0272-004

chr2:
163172283-163172283

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

IFIH1

mAGRE2308

chr2:
163133945-163133949

AATCT

A

exonic

Paternal

frameshift deletion

NM_022168

c.2020_2023del

p.R674fs

-

7.0E-4

Cirnigliaro2023 G

IFIH1

mAGRE1091

chr2:
163133945-163133949

AATCT

A

exonic

Maternal

frameshift deletion

NM_022168

c.2020_2023del

p.R674fs

-

7.0E-4

Cirnigliaro2023 G

IFIH1

2-1258-004

chr2:
163195890-163195890

T

TCA

intergenic

De novo

-

Trost2022 G

IFIH1

2-1288-003

chr2:
163187126-163187126

T

C

intergenic

De novo

-

Trost2022 G
Yuen2017 G

IFIH1

2-1258-004

chr2:
163195878-163195878

T

TTA

intergenic

De novo

-

Trost2022 G

IFIH1

2-1258-004

chr2:
163195881-163195888

GTTAAGGA

TGCATGTAG

intergenic

De novo

-

Trost2022 G

IFIH1

MSSNG00117-003

chr2:
163146940-163146940

T

C

intronic

De novo

-

Trost2022 G

IFIH1

7-0143-003

chr2:
163134096-163134096

G

A

exonic

De novo

nonsynonymous SNV

NM_022168

c.C1873T

p.H625Y

3.254

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

IFIH1

MSSNG00413-003

chr2:
163176623-163176623

T

C

intergenic

De novo

-

Trost2022 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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