Variant Results

or

Results for "IGLL5"

Variant Events: 31

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

IGLL5

13298.p1

chr22:
23282248-23282248

A

G

intergenic

De novo

-

Turner2016 G

IGLL5

09C99930

chr22:
23230278-23230278

G

C

exonic

De novo

nonsynonymous SNV

NM_001178126

c.G45C

p.E15D

7.61

3.0E-4

Fu2022 E
Satterstrom2020 E

IGLL5

08C74054

chr22:
23235997-23235997

A

G

exonic

De novo

synonymous SNV

NM_001178126

c.A324G

p.L108L

-

5.029E-5

Fu2022 E
Satterstrom2020 E

IGLL5

08C74660

chr22:
23230192-23230192

T

A

UTR5

De novo

-

Satterstrom2020 E

IGLL5

05C49423

chr22:
23235983-23235983

A

G

exonic

De novo

nonsynonymous SNV

NM_001178126

c.A310G

p.K104E

7.991

8.389E-6

Fu2022 E

IGLL5

08C72662

chr22:
23230410-23230410

C

G

exonic

De novo

nonsynonymous SNV

NM_001178126
NM_001256296

c.C177G
c.C71G

p.S59R
p.A24G

10.9

-

Fu2022 E
Satterstrom2020 E

IGLL5

11C119383

chr22:
23230402-23230402

G

A

exonic

De novo

nonsynonymous SNV

NM_001178126

c.G169A

p.G57R

14.96

-

Fu2022 E

IGLL5

7-0001-003

chr22:
23306826-23306826

T

G

intergenic

De novo

-

Yuen2017 G

IGLL5

200675360_1082034754

chr22:
23230312-23230312

C

T

exonic

De novo

synonymous SNV

NM_001178126

c.C79T

p.L27L

-

3.0E-4

Fu2022 E

IGLL5

08C78637

chr22:
23235997-23235997

A

G

exonic

De novo

synonymous SNV

NM_001178126

c.A324G

p.L108L

-

5.029E-5

Fu2022 E

IGLL5

1-0196-005

chr22:
23334440-23334443

ATTT

ATT

intergenic

De novo

-

Yuen2017 G

IGLL5

AU0146302

chr22:
23247520-23247520

T

C

intergenic

De novo

-

Yuen2017 G

IGLL5

1-0150-004

chr22:
23394581-23394581

C

CTACTATCAA

intergenic

De novo

-

Yuen2017 G

IGLL5

09C86398

chr22:
23230428-23230428

C

G

exonic

De novo

nonsynonymous SNV

NM_001178126
NM_001256296

c.C195G
c.C89G

p.S65R
p.A30G

14.52

7.02E-5

Fu2022 E
Satterstrom2020 E

IGLL5

AU2072302

chr22:
23233227-23233227

C

G

intronic

De novo

-

Yuen2017 G

IGLL5

08C72844

chr22:
23230410-23230410

C

T

exonic

De novo

nonsynonymous SNV

NM_001256296

c.C71T

p.A24V

-

3.0E-4

Fu2022 E
Satterstrom2020 E

IGLL5

08C75727

chr22:
23230441-23230441

T

G

splicing

De novo

splicing

8.333

-

Fu2022 E
Satterstrom2020 E

IGLL5

200675360@1082034754

chr22:
23230312-23230312

C

T

exonic

De novo

synonymous SNV

NM_001178126

c.C79T

p.L27L

-

3.0E-4

Satterstrom2020 E

IGLL5

2-0318-004

chr22:
23340957-23340957

C

T

intergenic

De novo

-

Yuen2017 G

IGLL5

7-0008-003

chr22:
23315584-23315584

A

C

intergenic

De novo

-

Yuen2017 G

IGLL5

08C73837

chr22:
23230461-23230461

G

GAA

intronic

De novo

-

Satterstrom2020 E

IGLL5

04C29159

chr22:
23230455-23230455

T

C

intronic

De novo

-

Satterstrom2020 E

IGLL5

1-0518-003

chr22:
23241410-23241410

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

IGLL5

AU1274301

chr22:
23235959-23235959

T

TG

exonic

De novo

frameshift insertion

NM_001178126

c.287dupG

p.C96fs

-

Fu2022 E
Satterstrom2020 E

IGLL5

A24

chr22:
23237459-23237459

C

T

intronic

De novo

-

Wu2018 G

IGLL5

08C72918

chr22:
23230346-23230346

T

C

exonic

De novo

nonsynonymous SNV

NM_001178126
NM_001256296

c.T113C
c.T7C

p.L38P
p.C3R

14.28

2.0E-4

Fu2022 E
Satterstrom2020 E

IGLL5

14134.p1

chr22:
23243354-23243354

C

T

intergenic

De novo

-

2.0E-4

Krumm2015 E

IGLL5

3-0330-000

chr22:
23230296-23230296

G

C

exonic

De novo

nonsynonymous SNV

NM_001178126

c.G63C

p.R21S

10.25

-

Tammimies2015 E

IGLL5

iHART1317

chr22:
23237790-23237790

G

A

exonic

Paternal

stopgain

NM_001256296
NM_001178126

c.G336A
c.G561A

p.W112X
p.W187X

32.0

-

Ruzzo2019 G

IGLL5

14402.p1

chr22:
23235930-23235930

G

A

exonic

De novo

nonsynonymous SNV

NM_001178126

c.G257A

p.R86Q

10.2

5.0E-4

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

IGLL5

1-0820-003

chr22:
23350285-23350285

C

T

intergenic

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
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