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Results for "IGLL5"

Variant Events: 27

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.p1chr22:
23282248-23282248
AGintergenicDe novo--Turner2016 G
IGLL5     09C99930chr22:
23230278-23230278
GCexonicDe novononsynonymous SNVNM_001178126c.G45Cp.E15D7.613.0E-4Satterstrom2020 E
IGLL5     08C74054chr22:
23235997-23235997
AGexonicDe novosynonymous SNVNM_001178126c.A324Gp.L108L-5.029E-5Satterstrom2020 E
IGLL5     08C74660chr22:
23230192-23230192
TAUTR5De novo--Satterstrom2020 E
IGLL5     08C72662chr22:
23230410-23230410
CGexonicDe novononsynonymous SNVNM_001178126
NM_001256296
c.C177G
c.C71G
p.S59R
p.A24G
10.9-Satterstrom2020 E
IGLL5     7-0001-003chr22:
23306826-23306826
TGintergenicDe novo--Yuen2017 G
IGLL5     1-0196-005chr22:
23334440-23334443
ATTTATTintergenicDe novo--Yuen2017 G
IGLL5     AU0146302chr22:
23247520-23247520
TCintergenicDe novo--Yuen2017 G
IGLL5     1-0150-004chr22:
23394581-23394581
CCTACTATCAAintergenicDe novo--Yuen2017 G
IGLL5     09C86398chr22:
23230428-23230428
CGexonicDe novononsynonymous SNVNM_001178126
NM_001256296
c.C195G
c.C89G
p.S65R
p.A30G
14.527.02E-5Satterstrom2020 E
IGLL5     AU2072302chr22:
23233227-23233227
CGintronicDe novo--Yuen2017 G
IGLL5     08C72844chr22:
23230410-23230410
CTexonicDe novononsynonymous SNVNM_001256296c.C71Tp.A24V-3.0E-4Satterstrom2020 E
IGLL5     08C75727chr22:
23230441-23230441
TGsplicingDe novosplicing8.333-Satterstrom2020 E
IGLL5     200675360@1082034754chr22:
23230312-23230312
CTexonicDe novosynonymous SNVNM_001178126c.C79Tp.L27L-3.0E-4Satterstrom2020 E
IGLL5     2-0318-004chr22:
23340957-23340957
CTintergenicDe novo--Yuen2017 G
IGLL5     7-0008-003chr22:
23315584-23315584
ACintergenicDe novo--Yuen2017 G
IGLL5     08C73837chr22:
23230461-23230461
GGAAintronicDe novo--Satterstrom2020 E
IGLL5     04C29159chr22:
23230455-23230455
TCintronicDe novo--Satterstrom2020 E
IGLL5     1-0518-003chr22:
23241410-23241410
CAintergenicDe novo--Yuen2016 G
Yuen2017 G
IGLL5     AU1274301chr22:
23235959-23235959
TTGexonicDe novoframeshift insertionNM_001178126c.287dupGp.C96fs--Satterstrom2020 E
IGLL5     A24chr22:
23237459-23237459
CTintronicDe novo--Wu2018 G
IGLL5     08C72918chr22:
23230346-23230346
TCexonicDe novononsynonymous SNVNM_001178126
NM_001256296
c.T113C
c.T7C
p.L38P
p.C3R
14.282.0E-4Satterstrom2020 E
IGLL5     14134.p1chr22:
23243354-23243354
CTintergenicDe novo-2.0E-4Krumm2015 E
IGLL5     3-0330-000chr22:
23230296-23230296
GCexonicDe novononsynonymous SNVNM_001178126c.G63Cp.R21S10.25-Tammimies2015 E
IGLL5     iHART1317chr22:
23237790-23237790
GAexonicPaternalstopgainNM_001256296
NM_001178126
c.G336A
c.G561A
p.W112X
p.W187X
32.0-Ruzzo2019 G
IGLL5     14402.p1chr22:
23235930-23235930
GAexonicDe novononsynonymous SNVNM_001178126c.G257Ap.R86Q10.25.0E-4Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
IGLL5     1-0820-003chr22:
23350285-23350285
CTintergenicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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 notesView
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