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Results for "CLTC"

Variant Events: 11

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     85433050chr17:
57737944-57737944
CTexonicUnknownnonsynonymous SNVNM_001288653
NM_004859
c.C1174T
c.C1162T
p.P392S
p.P388S
16.8-Wang2020 T
Wang2020 T
CLTC     07C71009chr17:
57744162-57744163
TATexonicDe novoframeshift deletionNM_001288653
NM_004859
c.1965delA
c.1953delA
p.L655fs
p.L651fs
--Satterstrom2020 E
CLTC     SF0041524.p1chr17:
57763059-57763059
TCexonicDe novononsynonymous SNVNM_001288653
NM_004859
c.T4729C
c.T4717C
p.C1577R
p.C1573R
17.08-Wang2020 T
CLTC     03C15785chr17:
57754436-57754436
CTexonicUnknownnonsynonymous SNVNM_001288653
NM_004859
c.C2695T
c.C2683T
p.R899C
p.R895C
22.6-Wang2020 T
Wang2020 T
CLTC     EGAN00001101087chr17:
57744172-57744172
CGexonicDe novostopgainNM_001288653
NM_004859
c.C1974G
c.C1962G
p.Y658X
p.Y654X
39.0-Satterstrom2020 E
CLTC     217-14310-4270chr17:
57759144-57759144
TGexonicUnknownnonsynonymous SNVNM_001288653
NM_004859
c.T3398G
c.T3386G
p.I1133S
p.I1129S
22.9-Wang2020 T
Wang2020 T
CLTC     217-14332-4460chr17:
57758839-57758839
GGGTexonicUnknownframeshift insertionNM_001288653
NM_004859
c.3261_3262insGT
c.3249_3250insGT
p.Q1087fs
p.Q1083fs
-3.334E-5Wang2020 T
Wang2020 T
CLTC     104914chr17:
57742167-57742167
GAexonicUnknownstopgainNM_001288653
NM_004859
c.G1553A
c.G1541A
p.W518X
p.W514X
41.0-Wang2020 T
Wang2020 T
CLTC     AU03604chr17:
57758401-57758401
TCexonicDe novosynonymous SNVNM_001288653
NM_004859
c.T3060C
c.T3048C
p.S1020S
p.S1016S
--DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
CLTC     09C95447chr17:
57763169-57763169
GGGTAATGACTCTTCexonicUnknownframeshift insertionNM_001288653
NM_004859
c.4839_4840insGTAATGACTCTTC
c.4827_4828insGTAATGACTCTTC
p.K1613fs
p.K1609fs
-4.974E-5Wang2020 T
Wang2020 T
Wang2020 T
CLTC     09C95446chr17:
57763169-57763169
GGGTAATGACTCTTCexonicUnknownframeshift insertionNM_001288653
NM_004859
c.4839_4840insGTAATGACTCTTC
c.4827_4828insGTAATGACTCTTC
p.K1613fs
p.K1609fs
-4.974E-5Wang2020 T
Wang2020 T
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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