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Results for "TNS1"

Variant Events: 33

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
TNS1     13802.p1chr2:
218683269-218683269
CTexonicDe novosynonymous SNVNM_001308023
NM_001308022
NM_022648
c.G3411A
c.G3435A
c.G3474A
p.P1137P
p.P1145P
p.P1158P
-4.12E-5Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
TNS1     2-1507-003chr2:
218894093-218894093
TCintergenicDe novo--Yuen2017 G
TNS1     7-0032-003chr2:
218871775-218871775
AGintergenicDe novo--Yuen2017 G
TNS1     1-0259-005chr2:
218759200-218759200
CTintronicDe novo--Yuen2017 G
TNS1     2-1146-003chr2:
218781325-218781325
CTintronicDe novo--Yuen2017 G
TNS1     AU3846303chr2:
218880723-218880723
GCintergenicDe novo--Yuen2017 G
TNS1     PN400150chr2:
218669288-218669288
GAexonicUnknownnonsynonymous SNVNM_001308023
NM_001308022
NM_022648
c.C5039T
c.C5060T
c.C5102T
p.T1680M
p.T1687M
p.T1701M
27.90.0027Leblond2019 E
TNS1     PN400190chr2:
218745717-218745717
CGexonicUnknownnonsynonymous SNVNM_001308022
NM_001308023
NM_022648
c.G958C
c.G958C
c.G958C
p.G320R
p.G320R
p.G320R
21.90.0044Leblond2019 E
TNS1     PN400371chr2:
218745717-218745717
CGexonicUnknownnonsynonymous SNVNM_001308022
NM_001308023
NM_022648
c.G958C
c.G958C
c.G958C
p.G320R
p.G320R
p.G320R
21.90.0044Leblond2019 E
TNS1     AU002405chr2:
218858792-218858792
GTintergenicDe novo--Yuen2017 G
TNS1     AU3964302chr2:
218881769-218881769
ACintergenicDe novo--Yuen2017 G
TNS1     3-0246-000chr2:
218900801-218900801
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
TNS1     1-0330-003chr2:
218715468-218715468
AGintronicDe novo--Yuen2017 G
TNS1     5-0125-003chr2:
218840466-218840466
CTintergenicDe novo--Yuen2017 G
TNS1     PN400380chr2:
218745717-218745717
CGexonicUnknownnonsynonymous SNVNM_001308022
NM_001308023
NM_022648
c.G958C
c.G958C
c.G958C
p.G320R
p.G320R
p.G320R
21.90.0044Leblond2019 E
TNS1     018-08-108865chr2:
218674598-218674598
CTexonicDe novononsynonymous SNVNM_001308023
NM_001308022
NM_022648
c.G4846A
c.G4867A
c.G4909A
p.V1616I
p.V1623I
p.V1637I
17.81.0E-4Satterstrom2020 E
TNS1     PN400512chr2:
218745717-218745717
CGexonicUnknownnonsynonymous SNVNM_001308022
NM_001308023
NM_022648
c.G958C
c.G958C
c.G958C
p.G320R
p.G320R
p.G320R
21.90.0044Leblond2019 E
TNS1     1-0054-004chr2:
218715407-218715407
GAintronicDe novo--Yuen2017 G
TNS1     PN400277chr2:
218745717-218745717
CGexonicUnknownnonsynonymous SNVNM_001308022
NM_001308023
NM_022648
c.G958C
c.G958C
c.G958C
p.G320R
p.G320R
p.G320R
21.90.0044Leblond2019 E
TNS1     1-0534-004chr2:
218720462-218720462
GAintronicDe novo--Yuen2017 G
TNS1     2-1085-004chr2:
218704227-218704227
GCintronicDe novo--Yuen2017 G
TNS1     PN400394chr2:
218745717-218745717
CGexonicUnknownnonsynonymous SNVNM_001308022
NM_001308023
NM_022648
c.G958C
c.G958C
c.G958C
p.G320R
p.G320R
p.G320R
21.90.0044Leblond2019 E
TNS1     PN400457chr2:
218686643-218686643
TAexonicUnknownnonsynonymous SNVNM_001308023
NM_001308022
NM_022648
c.A3017T
c.A3041T
c.A3080T
p.E1006V
p.E1014V
p.E1027V
22.70.0028Leblond2019 E
TNS1     1-0736-003chr2:
218892670-218892670
AGintergenicDe novo--Yuen2017 G
TNS1     PN400157chr2:
218745717-218745717
CGexonicUnknownnonsynonymous SNVNM_001308022
NM_001308023
NM_022648
c.G958C
c.G958C
c.G958C
p.G320R
p.G320R
p.G320R
21.90.0044Leblond2019 E
TNS1     21762-34808chr2:
218713221-218713221
GCexonicInheritedstopgainNM_001308022
NM_001308023
NM_022648
c.C1644G
c.C1644G
c.C1644G
p.Y548X
p.Y548X
p.Y548X
38.0-Callaghan2019 G
TNS1     PN400149chr2:
218669288-218669288
GAexonicUnknownnonsynonymous SNVNM_001308023
NM_001308022
NM_022648
c.C5039T
c.C5060T
c.C5102T
p.T1680M
p.T1687M
p.T1701M
27.90.0027Leblond2019 E
TNS1     14642.p1chr2:
218747392-218747392
TGintronicDe novo--Turner2016 G
TNS1     PN400249chr2:
218686643-218686643
TAexonicUnknownnonsynonymous SNVNM_001308023
NM_001308022
NM_022648
c.A3017T
c.A3041T
c.A3080T
p.E1006V
p.E1014V
p.E1027V
22.70.0028Leblond2019 E
TNS1     PN400480chr2:
218745717-218745717
CGexonicUnknownnonsynonymous SNVNM_001308022
NM_001308023
NM_022648
c.G958C
c.G958C
c.G958C
p.G320R
p.G320R
p.G320R
21.90.0044Leblond2019 E
TNS1     74-0115chr2:
218862562-218862562
GTintergenicInherited--Michaelson2012 G
TNS1     PN400372chr2:
218686643-218686643
TAexonicUnknownnonsynonymous SNVNM_001308023
NM_001308022
NM_022648
c.A3017T
c.A3041T
c.A3080T
p.E1006V
p.E1014V
p.E1027V
22.70.0028Leblond2019 E
TNS1     PN400194chr2:
218686643-218686643
TAexonicUnknownnonsynonymous SNVNM_001308023
NM_001308022
NM_022648
c.A3017T
c.A3041T
c.A3080T
p.E1006V
p.E1014V
p.E1027V
22.70.0028Leblond2019 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 notesView
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