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Results for "IL16"

Variant Events: 18

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
IL16     2-0244-004chr15:
81561323-81561323
GAintronicDe novo--Trost2022 G
Yuen2017 G
IL16     3-0065-000chr15:
81581969-81581987
TTTGTTGTTGTTGTTGTTGTTTGTTGTTGTTGTTGintronicDe novo--Yuen2017 G
IL16     1-0105-003chr15:
81567215-81567215
TCintronicDe novo--Trost2022 G
IL16     4-0084-004chr15:
81595128-81595128
TGintronicDe novo--Trost2022 G
IL16     AU3124302chr15:
81554926-81554926
GTintronicDe novo--Trost2022 G
IL16     1-0105-003chr15:
81566201-81566201
TCintronicDe novo--Trost2022 G
IL16     Codina-Sola2015:ASD_34chr15:
81601104-81601104
CTexonicMaternalstopgainNM_004513
NM_172217
NM_001172128
c.C1861T
c.C3964T
c.C3961T
p.Q621X
p.Q1322X
p.Q1321X
42.04.972E-5Codina-Sola2015 E
IL16     AU2100302chr15:
81549046-81549046
GAintronicDe novo--Yuen2017 G
IL16     AU057503chr15:
81592832-81592832
CTintronicDe novo-6.038E-5Yuen2017 G
IL16     562-06-107529chr15:
81593836-81593836
GTexonicDe novononsynonymous SNVNM_004513
NM_172217
NM_001172128
c.G1198T
c.G3301T
c.G3301T
p.D400Y
p.D1101Y
p.D1101Y
16.74-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
IL16     ASP014chr15:
81561848-81561848
AGintronicDe novo--Satterstrom2020 E
Trost2022 G
IL16     SP0124305chr15:
81571945-81571945
CTexonicDe novononsynonymous SNVNM_172217
NM_001172128
c.C911T
c.C911T
p.T304M
p.T304M
4.0725.122E-5Fu2022 E
Trost2022 G
Zhou2022 GE
IL16     MSSNG00407-003chr15:
81525848-81525848
TCintronicDe novo--Trost2022 G
IL16     1-0380-003chr15:
81532968-81532969
CCTAintronicDe novo--Trost2022 G
IL16     10-1155-004chr15:
81497134-81497134
GAintronicDe novo--Trost2022 G
IL16     2-0208-004chr15:
81507120-81507120
CGintronicDe novo--Yuen2017 G
IL16     SP0079670chr15:
81489259-81489259
TCUTR5De novo--Fu2022 E
Trost2022 G
IL16     SP0028357chr15:
81552199-81552199
AGexonicDe novosynonymous SNVNM_172217
NM_001172128
c.A399G
c.A399G
p.Q133Q
p.Q133Q
--Fu2022 E
Zhou2022 GE
Source Variant Information

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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
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