or
or
Exact

Results for "CLTCL1"

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
CLTCL1     14144.p1chr22:
19245355-19245355
GAintronicDe novo12.79-Wilfert2021 G
CLTCL1     Codina-Sola2015:ASD_21chr22:
19241669-19241669
CGexonicPaternalnonsynonymous SNVNM_001835
NM_007098
c.G332C
c.G332C
p.W111S
p.W111S
21.74.272E-5Codina-Sola2015 E
CLTCL1     AU3888302chr22:
19273580-19273580
CAintronicDe novo--Yuen2017 G
CLTCL1     2-0242-005chr22:
19288412-19288412
AACTTintergenicDe novo--Yuen2017 G
CLTCL1     iHART3272chr22:
19263287-19263287
AATexonicPaternalframeshift insertionNM_001835
NM_007098
c.108_109insA
c.108_109insA
p.F37fs
p.F37fs
--Ruzzo2019 G
CLTCL1     Codina-Sola2015:ASD_13chr22:
19241666-19241666
TGexonicPaternalnonsynonymous SNVNM_001835
NM_007098
c.A335C
c.A335C
p.K112T
p.K112T
17.78-Codina-Sola2015 E
CLTCL1     5-0017-004chr22:
19178757-19178757
GCintronicDe novo--Yuen2017 G
CLTCL1     AU1987301chr22:
19184972-19184972
CTintronicDe novo--Yuen2017 G
CLTCL1     iHART3252chr22:
19183845-19183845
CCAexonicPaternalframeshift insertionNM_001835
NM_007098
c.4122dupT
c.4122dupT
p.V1375fs
p.V1375fs
-1.657E-5Ruzzo2019 G
CLTCL1     iHART3256chr22:
19183845-19183845
CCAexonicPaternalframeshift insertionNM_001835
NM_007098
c.4122dupT
c.4122dupT
p.V1375fs
p.V1375fs
-1.657E-5Ruzzo2019 G
CLTCL1     PN400326chr22:
19241533-19241533
GCexonicUnknownstopgainNM_001835
NM_007098
c.C468G
c.C468G
p.Y156X
p.Y156X
10.55-Leblond2019 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