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Results for "ST18"
Variant Events: 58
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
ST18
MT_30.3
chr8:
53292506-53292506
A
G
intronic
De novo
-
-
Trost2022
G
ST18
MSSNG00395-003
chr8:
53303589-53303589
T
C
intronic
De novo
-
-
Trost2022
G
ST18
MSSNG00184-003
chr8:
53278502-53278502
T
C
intronic
De novo
-
-
Trost2022
G
ST18
REACH000650
chr8:
53292243-53292243
A
G
intronic
De novo
-
-
Trost2022
G
ST18
2-1232-003
chr8:
53261050-53261050
C
T
intronic
De novo
-
-
Trost2022
G
ST18
PN400194
chr8:
53030923-53030923
G
T
exonic
Unknown
nonsynonymous SNV
NM_014682
c.C2834A
p.A945E
29.0
0.0036
Leblond2019
E
ST18
MSSNG00032-003
chr8:
53264863-53264863
T
G
intronic
De novo
-
-
Trost2022
G
ST18
1-0253-004
chr8:
53188830-53188830
G
A
intronic
De novo
-
-
Yuen2017
G
ST18
7-0411-003
chr8:
53231019-53231019
A
G
intronic
De novo
-
-
Trost2022
G
ST18
1-1105-005
chr8:
53249696-53249696
C
A
intronic
De novo
-
-
Trost2022
G
ST18
PN400480
chr8:
53030923-53030923
G
T
exonic
Unknown
nonsynonymous SNV
NM_014682
c.C2834A
p.A945E
29.0
0.0036
Leblond2019
E
ST18
AU3725302
chr8:
53275905-53275905
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ST18
2-0081-003
chr8:
53179679-53179679
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ST18
AU045514
chr8:
53210541-53210541
T
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ST18
2-1180-003
chr8:
53432556-53432556
T
C
intergenic
De novo
-
-
Yuen2016
G
Yuen2017
G
ST18
PN400209
chr8:
53030923-53030923
G
T
exonic
Unknown
nonsynonymous SNV
NM_014682
c.C2834A
p.A945E
29.0
0.0036
Leblond2019
E
ST18
AU036203
chr8:
53417337-53417337
T
C
intergenic
De novo
-
-
Yuen2017
G
ST18
2-1452-003
chr8:
53036442-53036442
T
C
intronic
De novo
-
-
Trost2022
G
Yuen2016
G
Yuen2017
G
ST18
AU3905302
chr8:
53336063-53336070
ACCACAGC
AC
intergenic
De novo
-
-
Yuen2017
G
ST18
PN400104
chr8:
53030923-53030923
G
T
exonic
Unknown
nonsynonymous SNV
NM_014682
c.C2834A
p.A945E
29.0
0.0036
Leblond2019
E
ST18
1-0218-003
chr8:
53188981-53188981
C
CA
intronic
De novo
-
-
Yuen2017
G
ST18
PN400285
chr8:
53030923-53030923
G
T
exonic
Unknown
nonsynonymous SNV
NM_014682
c.C2834A
p.A945E
29.0
0.0036
Leblond2019
E
ST18
PN400195
chr8:
53030923-53030923
G
T
exonic
Unknown
nonsynonymous SNV
NM_014682
c.C2834A
p.A945E
29.0
0.0036
Leblond2019
E
ST18
2-1302-003
chr8:
53205942-53205942
G
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ST18
871-19574
chr8:
53071669-53071669
G
C
exonic
Inherited
stopgain
NM_014682
c.C1595G
p.S532X
45.0
-
Callaghan2019
G
ST18
AU002405
chr8:
53364174-53364174
C
T
intergenic
De novo
-
-
Yuen2017
G
ST18
PN400261
chr8:
53030923-53030923
G
T
exonic
Unknown
nonsynonymous SNV
NM_014682
c.C2834A
p.A945E
29.0
0.0036
Leblond2019
E
ST18
1-0323-003
chr8:
53294214-53294214
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ST18
AU3808305
chr8:
53211578-53211578
T
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ST18
5-0003-003
chr8:
53147641-53147641
C
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ST18
1-0683-003
chr8:
53188839-53188839
A
ACCACATGCACACACAC
intronic
De novo
-
-
Yuen2017
G
ST18
1-0052-003
chr8:
53061087-53061087
C
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ST18
PN400396
chr8:
53030923-53030923
G
T
exonic
Unknown
nonsynonymous SNV
NM_014682
c.C2834A
p.A945E
29.0
0.0036
Leblond2019
E
ST18
7-0247-003
chr8:
53192689-53192689
A
G
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ST18
PN400297
chr8:
53030923-53030923
G
T
exonic
Unknown
nonsynonymous SNV
NM_014682
c.C2834A
p.A945E
29.0
0.0036
Leblond2019
E
ST18
2-0223-003
chr8:
53188989-53188989
A
AC
intronic
De novo
-
-
Yuen2017
G
ST18
19275-30820
chr8:
53045827-53045829
CGT
C
exonic
frameshift deletion
NM_014682
c.2333_2334del
p.H778fs
-
-
Callaghan2019
G
ST18
PN400257
chr8:
53030923-53030923
G
T
exonic
Unknown
nonsynonymous SNV
NM_014682
c.C2834A
p.A945E
29.0
0.0036
Leblond2019
E
ST18
PN400129
chr8:
53030923-53030923
G
T
exonic
Unknown
nonsynonymous SNV
NM_014682
c.C2834A
p.A945E
29.0
0.0036
Leblond2019
E
ST18
1-0489-003
chr8:
53105045-53105045
C
A
intronic
De novo
-
-
Trost2022
G
Yuen2016
G
Yuen2017
G
ST18
2-0286-003
chr8:
53176844-53176844
T
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ST18
PN400205
chr8:
53030923-53030923
G
T
exonic
Unknown
nonsynonymous SNV
NM_014682
c.C2834A
p.A945E
29.0
0.0036
Leblond2019
E
ST18
2-1380-003
chr8:
53140293-53140293
T
C
intronic
De novo
-
-
Trost2022
G
Yuen2016
G
Yuen2017
G
ST18
4-0062-003
chr8:
53054497-53054497
G
A
intronic
De novo
-
-
Trost2022
G
ST18
MSSNG00095-003
chr8:
53079563-53079563
T
C
intronic
De novo
-
-
Trost2022
G
ST18
PN400301
chr8:
53030923-53030923
G
T
exonic
Unknown
nonsynonymous SNV
NM_014682
c.C2834A
p.A945E
29.0
0.0036
Leblond2019
E
ST18
2-0018-004
chr8:
53188767-53188769
TAT
CAC
intronic
De novo
-
-
Trost2022
G
ST18
PN400470
chr8:
53030923-53030923
G
T
exonic
Unknown
nonsynonymous SNV
NM_014682
c.C2834A
p.A945E
29.0
0.0036
Leblond2019
E
ST18
3-0612-000
chr8:
53201970-53201970
G
A
intronic
De novo
-
-
Trost2022
G
ST18
7-0402-003
chr8:
53160340-53160340
A
G
intronic
De novo
-
-
Trost2022
G
ST18
1-0414-005
chr8:
53188531-53188531
G
A
intronic
De novo
-
-
Yuen2017
G
ST18
1-0458-004
chr8:
53188766-53188766
A
ACACCC
intronic
De novo
-
-
Trost2022
G
ST18
1-0611-005
chr8:
53122512-53122512
C
G
intronic
De novo
-
-
Trost2022
G
ST18
4-0019-003
chr8:
53148027-53148027
C
CA
intronic
De novo
-
-
Trost2022
G
ST18
1-0045-004
chr8:
53071507-53071507
C
T
exonic
De novo
nonsynonymous SNV
NM_014682
c.G1757A
p.R586K
13.95
-
Trost2022
G
Yuen2017
G
Zhou2022
G
E
ST18
AU3051302
chr8:
53114975-53114976
GT
G
intronic
De novo
-
-
Trost2022
G
ST18
2-1222-003
chr8:
53298998-53298998
A
G
intronic
De novo
-
-
Trost2022
G
Yuen2016
G
Yuen2017
G
ST18
2-1823-003
chr8:
53119089-53119089
C
T
intronic
De novo
-
-
Trost2022
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 notes
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