or
or
Exact

Results for "CLTC"

Variant Events: 15

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     TASC_217-14310-4270chr17:
57759144-57759144		TGexonicUnknownnonsynonymous SNVNM_001288653
NM_004859		c.T3398G
c.T3386G		p.I1133S
p.I1129S		22.9-Wang2020 T
CLTC     TASC_217-14332-4460chr17:
57758839-57758839		GGGTexonicUnknownframeshift insertionNM_001288653
NM_004859		c.3261_3262insGT
c.3249_3250insGT		p.Q1087fs
p.Q1083fs		-3.334E-5Wang2020 T
CLTC     Leuven_104914chr17:
57742167-57742167		GAexonicUnknownstopgainNM_001288653
NM_004859		c.G1553A
c.G1541A		p.W518X
p.W514X		41.0-Wang2020 T
CLTC     AGRE_09C95447chr17:
57763169-57763169		GGGTAATGACTCTTCexonicUnknownframeshift insertionNM_001288653
NM_004859		c.4839_4840insGTAATGACTCTTC
c.4827_4828insGTAATGACTCTTC		p.K1613fs
p.K1609fs		-4.974E-5Wang2020 T
CLTC     AGRE_03C15785chr17:
57754436-57754436		CTexonicUnknownnonsynonymous SNVNM_001288653
NM_004859		c.C2695T
c.C2683T		p.R899C
p.R895C		22.6-Wang2020 T
CLTC     AGRE_09C95446chr17:
57763169-57763169		GGGTAATGACTCTTCexonicUnknownframeshift insertionNM_001288653
NM_004859		c.4839_4840insGTAATGACTCTTC
c.4827_4828insGTAATGACTCTTC		p.K1613fs
p.K1609fs		-4.974E-5Wang2020 T
CLTC     REACH000578chr17:
57724937-57724937		TTCexonicframeshift insertionNM_001288653
NM_004859		c.442dupC
c.430dupC		p.D147fs
p.D143fs		--Antaki2022 GE
CLTC     SP0140577chr17:
57771246-57771246		CTUTR3De novo--Fu2022 E
CLTC     Leuven2_85433050chr17:
57737944-57737944		CTexonicUnknownnonsynonymous SNVNM_001288653
NM_004859		c.C1174T
c.C1162T		p.P392S
p.P388S		16.8-Wang2020 T
CLTC     SP0041524chr17:
57763059-57763059		TCexonicDe novononsynonymous SNVNM_001288653
NM_004859		c.T4729C
c.T4717C		p.C1577R
p.C1573R		17.08-Antaki2022 GE
Fu2022 E
CLTC     SF0041524.p1chr17:
57763059-57763059		TCexonicnonsynonymous SNVNM_001288653
NM_004859		c.T4729C
c.T4717C		p.C1577R
p.C1573R		17.08-Wang2020 T
CLTC     07C71009chr17:
57744162-57744163		TATexonicDe novoframeshift deletionNM_001288653
NM_004859		c.1965delA
c.1953delA		p.L655fs
p.L651fs		--Fu2022 E
Satterstrom2020 E
CLTC     DEASD_2032_001chr17:
57741360-57741360		GAintronicDe novo--Fu2022 E
CLTC     EGAN00001101087chr17:
57744172-57744172		CGexonicDe novostopgainNM_001288653
NM_004859		c.C1974G
c.C1962G		p.Y658X
p.Y654X		39.0-Fu2022 E
Satterstrom2020 E
CLTC     AU03604chr17:
57758401-57758401		TCexonicDe novosynonymous SNVNM_001288653
NM_004859		c.T3060C
c.T3048C		p.S1020S
p.S1016S		--DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
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 notesView
More

VariCarta Copyright © 2016-2020 Contact Us