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Results for "TLN2"

Variant Events: 38

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
TLN2     1-0555-003chr15:
62968623-62968623
GAintronicDe novo--Yuen2017 G
TLN2     2-1629-003chr15:
63104041-63104041
CTintronicDe novo--Yuen2017 G
TLN2     AU3397302chr15:
63143477-63143477
GAintergenicDe novo--Yuen2017 G
TLN2     1-0271-004chr15:
63114725-63114725
GAintronicDe novo--Yuen2017 G
TLN2     2-1153-003chr15:
63205403-63205403
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
TLN2     AU3874302chr15:
63028664-63028668
GACTTGACTTACTTintronicDe novo--Yuen2017 G
TLN2     iHART3220chr15:
63128130-63128130
CTexonicDe novononsynonymous SNVNM_015059c.C7232Tp.A2411V32.0-Ruzzo2019 G
TLN2     2-1215-003chr15:
63328520-63328529
CAGAAACTTGCintergenicDe novo--Yuen2017 G
TLN2     1-0706-003chr15:
63131098-63131098
GTexonicDe novononsynonymous SNVNM_015059c.G7418Tp.R2473L23.58.237E-6Yuen2017 G
TLN2     2-1290-004chr15:
63238150-63238150
TCintergenicDe novo--Yuen2017 G
TLN2     AU3903302chr15:
63128130-63128130
CTexonicDe novononsynonymous SNVNM_015059c.C7232Tp.A2411V32.0-Yuen2017 G
TLN2     2-0057-004chr15:
62946287-62946287
AGintronicDe novo--Yuen2017 G
TLN2     AU2292302chr15:
62952141-62952141
GAintronicDe novo--Yuen2017 G
TLN2     AU3648301chr15:
63112844-63112844
AGintronicDe novo-8.508E-6Yuen2017 G
TLN2     AU2292301chr15:
62952141-62952141
GAintronicDe novo--Yuen2017 G
TLN2     2-1605-003chr15:
63232686-63232686
GTintergenicDe novo--Yuen2017 G
TLN2     DEASD_0337_001chr15:
63089511-63089511
GAexonicDe novosynonymous SNVNM_015059c.G6144Ap.A2048A-3.331E-5DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
TLN2     1-0383-003chr15:
62962954-62962954
CTintronicDe novo--Yuen2017 G
TLN2     AU4079302chr15:
63031947-63031947
GAintronicDe novo--Yuen2017 G
TLN2     1-0609-003chr15:
63141372-63141374
GATGATATintergenicDe novo--Yuen2017 G
TLN2     AU3720302chr15:
63257123-63257123
TGintergenicDe novo--Yuen2017 G
TLN2     09C79752chr15:
63111781-63111781
GAexonicDe novononsynonymous SNVNM_015059c.G6838Ap.A2280T12.472.0E-4Satterstrom2020 E
TLN2     2-0270-003chr15:
63112519-63112519
CTintronicDe novo--Yuen2017 G
TLN2     1-0533-003chr15:
63066810-63066810
GAintronicDe novo--Yuen2017 G
TLN2     AU2458302chr15:
63012426-63012428
TCCTCintronicDe novo--Yuen2017 G
TLN2     12449.p1chr15:
63263805-63263805
GAintergenicDe novo--Turner2016 G
TLN2     2-1329-003chr15:
63290042-63290042
GTintergenicDe novo--Yuen2016 G
Yuen2017 G
TLN2     2-1188-003chr15:
62999776-62999776
AGintronicDe novo--Yuen2017 G
TLN2     2-1329-003chr15:
63299909-63299909
CGintergenicDe novo--Yuen2016 G
Yuen2017 G
TLN2     G01-GEA-100-HIchr15:
63000771-63000771
GAexonicDe novononsynonymous SNVNM_015059c.G2243Ap.R748H21.9-Lim2017 E
Satterstrom2020 E
TLN2     048-05-102699chr15:
63055814-63055814
CTexonicDe novononsynonymous SNVNM_015059c.C5014Tp.R1672W16.948.408E-6Satterstrom2020 E
TLN2     12498.p1chr15:
62947291-62947291
TAintronicDe novo--Turner2016 G
TLN2     14448.p1chr15:
62948224-62948230
TTTACTCTexonicDe novononframeshift deletionNM_015059c.600_605delp.200_202del--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
TLN2     AU4079301chr15:
63261455-63261455
TCintergenicDe novo--Yuen2017 G
TLN2     2-1329-003chr15:
63300517-63300517
ATintergenicDe novo--Yuen2016 G
Yuen2017 G
TLN2     5-0116-003chr15:
63190179-63190179
GTintergenicDe novo--Yuen2017 G
TLN2     AU4028302chr15:
63176494-63176494
ATintergenicDe novo--Yuen2017 G
TLN2     2-0043-003chr15:
63219880-63219880
CGintergenicDe novo--Yuen2016 G
Yuen2017 G
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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