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Results for "TNS1"

Variant Events: 52

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     SP0032351chr2:
218749835-218749835		CTexonicDe novononsynonymous SNVNM_001308022
NM_001308023
NM_022648		c.G794A
c.G794A
c.G794A		p.R265H
p.R265H
p.R265H		26.34.119E-5Trost2022 G
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
Zhou2022 GE
TNS1     3-0102-000chr2:
218752886-218752886		TGintronicDe novo--Trost2022 G
TNS1     SP0207027chr2:
218715301-218715301		GAintronicDe novo--Trost2022 G
TNS1     MSSNG00204-003chr2:
218728269-218728269		GTintronicDe novo--Trost2022 G
TNS1     2-1507-003chr2:
218894093-218894093		TCintergenicDe novo--Yuen2017 G
TNS1     MSSNG00226-003chr2:
218698922-218698922		CTintronicDe novo--Trost2022 G
TNS1     SP0169344chr2:
218712597-218712597		GCexonicDe novosynonymous SNVNM_001308022
NM_001308023
NM_022648		c.C2268G
c.C2268G
c.C2268G		p.S756S
p.S756S
p.S756S		-8.841E-6Trost2022 G
TNS1     1032chr2:
218677549-218677549		TCintronicDe novo--Trost2022 G
TNS1     AU2442301chr2:
218686761-218686761		GAintronicDe novo--Trost2022 G
TNS1     7-0266-003chr2:
218796888-218796888		CTintronicDe novo--Trost2022 G
TNS1     1-0511-003chr2:
218782292-218782292		CTintronicDe novo--Trost2022 G
TNS1     3-0485-000Achr2:
218794232-218794232		GAintronicDe novo--Trost2022 G
TNS1     2-1784-003chr2:
218764910-218764910		ACintronicDe novo--Trost2022 G
TNS1     5-5015-003chr2:
218770968-218770968		GAintronicDe novo--Trost2022 G
TNS1     2-1146-003chr2:
218781325-218781325		CTintronicDe novo--Trost2022 G
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     12347.p1chr2:
218700880-218700880		CTexonicnonsynonymous SNVNM_001308022
NM_001308023
NM_022648		c.G2687A
c.G2687A
c.G2687A		p.R896Q
p.R896Q
p.R896Q		32.04.982E-5Zhou2022 GE
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--Trost2022 G
Yuen2017 G
TNS1     5-0125-003chr2:
218840466-218840466		CTintergenicDe novo--Yuen2017 G
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--Trost2022 G
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--Trost2022 G
Yuen2017 G
TNS1     2-1085-004chr2:
218704227-218704227		GCintronicDe novo--Trost2022 G
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     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     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     7-0032-003chr2:
218871775-218871775		AGintergenicDe novo--Yuen2017 G
TNS1     1-0259-005chr2:
218759200-218759200		CTintronicDe novo--Trost2022 G
Yuen2017 G
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     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-4Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
TNS1     1-0736-003chr2:
218892670-218892670		AGintergenicDe novo--Yuen2017 G
TNS1     35977chr2:
218683269-218683269		CTexonicDe novosynonymous SNVNM_001308023
NM_001308022
NM_022648		c.G3411A
c.G3435A
c.G3474A		p.P1137P
p.P1145P
p.P1158P		-4.12E-5Fu2022 E
Trost2022 G
TNS1     110405chr2:
218682554-218682554		GAexonicDe novononsynonymous SNVNM_001308023
NM_001308022
NM_022648		c.C4126T
c.C4150T
c.C4189T		p.R1376W
p.R1384W
p.R1397W		18.661.648E-5Fu2022 E
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     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     1-1039-003chr2:
218674124-218674124		AGintronicDe novo--Trost2022 G
TNS1     1-1039-003chr2:
218674127-218674127		GCintronicDe novo--Trost2022 G
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     1-1039-003chr2:
218674122-218674122		GAintronicDe novo--Trost2022 G
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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