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Results for "CLTC"
Variant Events: 22
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
CLTC
Wang2023:385
chr17:
57760839-57760839
T
C
exonic
De novo
nonsynonymous SNV
NM_001288653
NM_004859
c.T4145C
c.T4133C
p.M1382T
p.M1378T
17.7
-
Wang2023
E
CLTC
TASC_217-14310-4270
chr17:
57759144-57759144
T
G
exonic
Unknown
nonsynonymous SNV
NM_001288653
NM_004859
c.T3398G
c.T3386G
p.I1133S
p.I1129S
22.9
-
Wang2020
T
CLTC
TASC_217-14332-4460
chr17:
57758839-57758839
G
GGT
exonic
Unknown
frameshift insertion
NM_001288653
NM_004859
c.3261_3262insGT
c.3249_3250insGT
p.Q1087fs
p.Q1083fs
-
3.334E-5
Wang2020
T
CLTC
Leuven_104914
chr17:
57742167-57742167
G
A
exonic
Unknown
stopgain
NM_001288653
NM_004859
c.G1553A
c.G1541A
p.W518X
p.W514X
41.0
-
Wang2020
T
CLTC
AGRE_09C95447
chr17:
57763169-57763169
G
GGTAATGACTCTTC
exonic
Unknown
frameshift insertion
NM_001288653
NM_004859
c.4839_4840insGTAATGACTCTTC
c.4827_4828insGTAATGACTCTTC
p.K1613fs
p.K1609fs
-
4.974E-5
Wang2020
T
CLTC
AGRE_03C15785
chr17:
57754436-57754436
C
T
exonic
Unknown
nonsynonymous SNV
NM_001288653
NM_004859
c.C2695T
c.C2683T
p.R899C
p.R895C
22.6
-
Wang2020
T
CLTC
AGRE_09C95446
chr17:
57763169-57763169
G
GGTAATGACTCTTC
exonic
Unknown
frameshift insertion
NM_001288653
NM_004859
c.4839_4840insGTAATGACTCTTC
c.4827_4828insGTAATGACTCTTC
p.K1613fs
p.K1609fs
-
4.974E-5
Wang2020
T
CLTC
REACH000578
chr17:
57724937-57724937
T
TC
exonic
frameshift insertion
NM_001288653
NM_004859
c.442dupC
c.430dupC
p.D147fs
p.D143fs
-
-
Antaki2022
G
E
Zhou2022
G
E
CLTC
SP0140577
chr17:
57771246-57771246
C
T
UTR3
De novo
-
-
Fu2022
E
Trost2022
G
CLTC
1-0611-003
chr17:
57743645-57743645
T
C
intronic
De novo
-
-
Trost2022
G
CLTC
Leuven2_85433050
chr17:
57737944-57737944
C
T
exonic
Unknown
nonsynonymous SNV
NM_001288653
NM_004859
c.C1174T
c.C1162T
p.P392S
p.P388S
16.8
-
Wang2020
T
CLTC
SP0041524
chr17:
57763059-57763059
T
C
exonic
De novo
nonsynonymous SNV
NM_001288653
NM_004859
c.T4729C
c.T4717C
p.C1577R
p.C1573R
17.08
-
Antaki2022
G
E
Fu2022
E
Trost2022
G
Zhou2022
G
E
CLTC
MSSNG00062-003
chr17:
57747872-57747872
A
G
intronic
De novo
-
-
Trost2022
G
CLTC
SF0041524.p1
chr17:
57763059-57763059
T
C
exonic
nonsynonymous SNV
NM_001288653
NM_004859
c.T4729C
c.T4717C
p.C1577R
p.C1573R
17.08
-
Wang2020
T
CLTC
3-0072-000
chr17:
57732387-57732387
A
G
intronic
De novo
-
-
Trost2022
G
CLTC
3-0072-000
chr17:
57732493-57732493
A
C
intronic
De novo
-
-
Trost2022
G
CLTC
MSSNG00214-003
chr17:
57703872-57703872
T
TA
intronic
De novo
-
-
Trost2022
G
CLTC
5-5015-003
chr17:
57722894-57722894
C
T
intronic
De novo
-
-
Trost2022
G
CLTC
07C71009
chr17:
57744162-57744163
TA
T
exonic
De novo
frameshift deletion
NM_001288653
NM_004859
c.1965delA
c.1953delA
p.L655fs
p.L651fs
-
-
Fu2022
E
Satterstrom2020
E
Trost2022
G
Zhou2022
G
E
CLTC
DEASD_2032_001
chr17:
57741360-57741360
G
A
intronic
De novo
-
-
Fu2022
E
CLTC
EGAN00001101087
chr17:
57744172-57744172
C
G
exonic
De novo
stopgain
NM_001288653
NM_004859
c.C1974G
c.C1962G
p.Y658X
p.Y654X
39.0
-
Fu2022
E
Satterstrom2020
E
Trost2022
G
Zhou2022
G
E
CLTC
AU03604
chr17:
57758401-57758401
T
C
exonic
De novo
synonymous SNV
NM_001288653
NM_004859
c.T3060C
c.T3048C
p.S1020S
p.S1016S
-
-
DeRubeis2014
E
Fu2022
E
Kosmicki2017
E
Lim2017
E
Neale2012
E
Satterstrom2020
E
Trost2022
G
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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