or
or
Exact

Results for "GLI3"

Variant Events: 53

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
GLI3     AU4234302chr7:
41912905-41912905
AGintergenicDe novo--Yuen2017 G
GLI3     1-0375-003chr7:
42486267-42486267
CAintergenicDe novo--Yuen2016 G
Yuen2017 G
GLI3     1-0485-003chr7:
42606212-42606212
AGintergenicDe novo--Yuen2017 G
GLI3     1-0998-003chr7:
42306418-42306418
TCintergenicDe novo--Yuen2017 G
GLI3     1-0138-004chr7:
42271898-42271898
TGintronicDe novo--Yuen2017 G
GLI3     2-0135-003chr7:
42040778-42040778
AGintronicDe novo--Yuen2017 G
GLI3     2-1339-003chr7:
42598071-42598074
GTTCGintergenicDe novo--Yuen2017 G
GLI3     2-1719-003chr7:
41952862-41952862
TCintergenicDe novo--Yuen2017 G
GLI3     AU2711303chr7:
42080739-42080739
TCintronicDe novo--Yuen2017 G
GLI3     2-1155-003chr7:
41978235-41978235
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
GLI3     2-1719-003chr7:
42577437-42577437
TCintergenicDe novo--Yuen2017 G
GLI3     2-1362-004chr7:
42433996-42433996
AGintergenicDe novo--Yuen2017 G
GLI3     AU3343301chr7:
42001668-42001668
GAUTR3De novo--Yuen2017 G
GLI3     1-0150-004chr7:
41928724-41928724
CTintergenicDe novo--Yuen2017 G
GLI3     NDAR_INVMT684YC0_wes1chr7:
42005456-42005456
TGexonicDe novononsynonymous SNVNM_000168c.A3215Cp.N1072T24.6-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
GLI3     2-0306-004chr7:
42019958-42019958
GAintronicDe novo--Yuen2017 G
GLI3     3-0432-000chr7:
42475670-42475670
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
GLI3     2-0003-004chr7:
42339360-42339360
CTintergenicDe novo--Yuen2017 G
GLI3     AU4473301chr7:
42267776-42267776
GTintronicDe novo--Yuen2017 G
GLI3     AU4173301chr7:
42312819-42312819
CTintergenicDe novo--Yuen2017 G
GLI3     2-0306-003chr7:
42019958-42019958
GAintronicDe novo--Yuen2016 G
GLI3     AU3052301chr7:
42632246-42632246
TGintergenicDe novo--Yuen2017 G
GLI3     2-1288-003chr7:
41930910-41930910
GCintergenicDe novo--Yuen2017 G
GLI3     Mahjani2021:63chr7:
42012220-42012220
AGexonicnonsynonymous SNVNM_000168c.T1819Cp.Y607H25.9-Mahjani2021 E
GLI3     2-1333-003chr7:
42511386-42511386
TGintergenicDe novo--Yuen2017 G
GLI3     1-0571-003chr7:
42513632-42513632
TCintergenicDe novo--Yuen2017 G
GLI3     2-1440-003chr7:
42401206-42401206
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
GLI3     AU2792302chr7:
42178181-42178181
GAintronicDe novo--Yuen2017 G
GLI3     AU003405chr7:
42669291-42669291
GAintergenicDe novo--Yuen2017 G
GLI3     IGM10945chr7:
42079736-42079736
ATexonicDe novononsynonymous SNVNM_000168c.T929Ap.I310K27.7-Satterstrom2020 E
GLI3     2-1725-003chr7:
42007126-42007126
GAintronicDe novo--Yuen2017 G
GLI3     AU039305chr7:
42064062-42064062
CTintronicDe novo--Yuen2017 G
GLI3     5-0061-003chr7:
42663957-42663957
TCintergenicDe novo--Yuen2017 G
GLI3     12605.p1chr7:
42112333-42112333
CTintronicDe novo--Werling2018 G
Wilfert2021 G
GLI3     60-2027chr7:
42438427-42438427
ATintergenicDe novo--Michaelson2012 G
GLI3     AU4012302chr7:
42207263-42207263
TCintronicDe novo--Yuen2017 G
GLI3     AU3368303chr7:
41957323-41957323
ATintergenicDe novo--Yuen2017 G
GLI3     AU031203chr7:
42232831-42232831
CGintronicDe novo--Yuen2017 G
GLI3     1-0868-003chr7:
41864473-41864473
GAintergenicDe novo--Yuen2017 G
GLI3     1-0554-003chr7:
42504128-42504128
GAintergenicDe novo--Yuen2017 G
GLI3     AU4308302chr7:
42688076-42688076
TGintergenicDe novo--Yuen2017 G
GLI3     7-0012-003chr7:
42340463-42340463
GTintergenicDe novo--Yuen2017 G
GLI3     2-1357-004chr7:
42697792-42697792
TCintergenicDe novo--Yuen2017 G
GLI3     13210.p1chr7:
42004243-42004243
GAexonicDe novosynonymous SNVNM_000168c.C4428Tp.N1476N--Iossifov2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
GLI3     2-1352-003chr7:
42136546-42136546
CAintronicDe novo--Yuen2016 G
GLI3     AU2495301chr7:
41929952-41929952
TGintergenicDe novo--Yuen2017 G
GLI3     1-0107-003chr7:
42193946-42193946
GAintronicDe novo--Yuen2016 G
Yuen2017 G
GLI3     1-0330-004chr7:
41827079-41827079
TCintergenicDe novo--Yuen2017 G
GLI3     AU4159302chr7:
42448795-42448795
CAintergenicDe novo--Yuen2017 G
GLI3     12795.p1chr7:
41930880-41930880
ATintergenicDe novo--Turner2016 G
GLI3     2-1605-003chr7:
42341327-42341327
TCintergenicDe novo--Yuen2017 G
GLI3     AU4069302chr7:
42670924-42670924
AGintergenicDe novo--Yuen2017 G
GLI3     AU4069302chr7:
42670959-42670959
GAintergenicDe 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
Curation notesView
More