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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
2-0244-004
chr15:
81561323-81561323
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
IL16
3-0065-000
chr15:
81581969-81581987
TTTGTTGTTGTTGTTGTTG
TTTGTTGTTGTTGTTG
intronic
De novo
-
-
Yuen2017
G
IL16
1-0105-003
chr15:
81567215-81567215
T
C
intronic
De novo
-
-
Trost2022
G
IL16
4-0084-004
chr15:
81595128-81595128
T
G
intronic
De novo
-
-
Trost2022
G
IL16
AU3124302
chr15:
81554926-81554926
G
T
intronic
De novo
-
-
Trost2022
G
IL16
1-0105-003
chr15:
81566201-81566201
T
C
intronic
De novo
-
-
Trost2022
G
IL16
Codina-Sola2015:ASD_34
chr15:
81601104-81601104
C
T
exonic
Maternal
stopgain
NM_004513
NM_172217
NM_001172128
c.C1861T
c.C3964T
c.C3961T
p.Q621X
p.Q1322X
p.Q1321X
42.0
4.972E-5
Codina-Sola2015
E
IL16
AU2100302
chr15:
81549046-81549046
G
A
intronic
De novo
-
-
Yuen2017
G
IL16
AU057503
chr15:
81592832-81592832
C
T
intronic
De novo
-
6.038E-5
Yuen2017
G
IL16
562-06-107529
chr15:
81593836-81593836
G
T
exonic
De novo
nonsynonymous SNV
NM_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
G
E
IL16
ASP014
chr15:
81561848-81561848
A
G
intronic
De novo
-
-
Satterstrom2020
E
Trost2022
G
IL16
SP0124305
chr15:
81571945-81571945
C
T
exonic
De novo
nonsynonymous SNV
NM_172217
NM_001172128
c.C911T
c.C911T
p.T304M
p.T304M
4.072
5.122E-5
Fu2022
E
Trost2022
G
Zhou2022
G
E
IL16
MSSNG00407-003
chr15:
81525848-81525848
T
C
intronic
De novo
-
-
Trost2022
G
IL16
1-0380-003
chr15:
81532968-81532969
CC
TA
intronic
De novo
-
-
Trost2022
G
IL16
10-1155-004
chr15:
81497134-81497134
G
A
intronic
De novo
-
-
Trost2022
G
IL16
2-0208-004
chr15:
81507120-81507120
C
G
intronic
De novo
-
-
Yuen2017
G
IL16
SP0079670
chr15:
81489259-81489259
T
C
UTR5
De novo
-
-
Fu2022
E
Trost2022
G
IL16
SP0028357
chr15:
81552199-81552199
A
G
exonic
De novo
synonymous SNV
NM_172217
NM_001172128
c.A399G
c.A399G
p.Q133Q
p.Q133Q
-
-
Fu2022
E
Zhou2022
G
E
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 notes
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