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Results for "TSC1"

Variant Events: 73

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
TSC1     5-0074-003chr9:
135774614-135774614		GAintronicDe novo--Trost2022 G
Yuen2017 G
TSC1     SP0041417chr9:
135786863-135786863		GAexonicDe novononsynonymous SNVNM_001162427
NM_000368
NM_001162426		c.C853T
c.C1006T
c.C1006T		p.R285W
p.R336W
p.R336W		15.595.766E-5Trost2022 G
Zhou2022 GE
TSC1     SP0137401chr9:
135781167-135781167		GGCexonicDe novoframeshift insertionNM_001162427
NM_000368
NM_001162426		c.1644dupG
c.1797dupG
c.1794dupG		p.Q549fs
p.Q600fs
p.Q599fs		--Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
TSC1     SP0064643chr9:
135778003-135778003		GAexonicDe novostopgainNM_001162427
NM_000368
NM_001162426		c.C2227T
c.C2380T
c.C2377T		p.Q743X
p.Q794X
p.Q793X		42.0-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
TSC1     MT_109chr9:
135797313-135797313		CTexonicMaternalnonsynonymous SNVNM_001162427
NM_000368
NM_001162426		c.G403A
c.G556A
c.G556A		p.A135T
p.A186T
p.A186T		22.6-Toma2013 E
TSC1     Chen2021:33chr9:
135796751-135796765		TTCGAGGGTCCAGTTTexonicMaternalframeshift deletionNM_001162427
NM_000368
NM_001162426		c.569_582del
c.722_735del
c.722_735del		p.E190fs
p.E241fs
p.E241fs		--Chen2021 GET
TSC1     SP0071113chr9:
135787831-135787831		CAexonicDe novostopgainNM_001162427
NM_000368
NM_001162426		c.G598T
c.G751T
c.G751T		p.E200X
p.E251X
p.E251X		39.0-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
TSC1     SP0007488chr9:
135773000-135773000		GAintronicDe novo--Trost2022 G
TSC1     SP0021672chr9:
135773000-135773000		GAintronicDe novo--Trost2022 G
TSC1     SP0006028chr9:
135773000-135773000		GAintronicDe novo--Trost2022 G
TSC1     SP0063700chr9:
135773000-135773000		GAintronicDe novo--Trost2022 G
TSC1     Schaaf2011:59chr9:
135771918-135771918		TGexonicUnknownnonsynonymous SNVNM_001162427
NM_000368
NM_001162426		c.A3046C
c.A3199C
c.A3196C		p.M1016L
p.M1067L
p.M1066L		0.006-Schaaf2011 T
TSC1     SP0069069chr9:
135773000-135773000		GAintronicDe novo--Trost2022 G
TSC1     SP0048711chr9:
135773000-135773000		GAintronicDe novo--Trost2022 G
TSC1     SP0062038chr9:
135773000-135773000		GAintronicDe novo--Trost2022 G
TSC1     Schaaf2011:62chr9:
135779052-135779052		GAexonicUnknownnonsynonymous SNVNM_001162427
NM_000368
NM_001162426		c.C2041T
c.C2194T
c.C2191T		p.H681Y
p.H732Y
p.H731Y		27.40.0039Schaaf2011 T
TSC1     SP0030771chr9:
135773000-135773000		GAintronicDe novo--Trost2022 G
TSC1     Schaaf2011:63chr9:
135781205-135781205		TCexonicUnknownnonsynonymous SNVNM_001162427
NM_000368
NM_001162426		c.A1607G
c.A1760G
c.A1757G		p.K536R
p.K587R
p.K586R		14.850.0188Schaaf2011 T
TSC1     SP0043417chr9:
135773000-135773000		GAintronicDe novo--Trost2022 G
TSC1     Schaaf2011:60chr9:
135772014-135772014		CTexonicUnknownnonsynonymous SNVNM_001162427
NM_000368
NM_001162426		c.G2950A
c.G3103A
c.G3100A		p.G984S
p.G1035S
p.G1034S		10.570.0014Schaaf2011 T
TSC1     SP0024001chr9:
135773000-135773000		GAintronicDe novo--Trost2022 G
TSC1     Schaaf2011:61chr9:
135778098-135778098		TCexonicUnknownnonsynonymous SNVNM_001162427
NM_000368
NM_001162426		c.A2132G
c.A2285G
c.A2282G		p.N711S
p.N762S
p.N761S		6.8134.0E-4Schaaf2011 T
TSC1     SP0024252chr9:
135773000-135773000		GAintronicDe novo--Trost2022 G
TSC1     Schaaf2011:66chr9:
135786013-135786013		GAexonicUnknownnonsynonymous SNVNM_001162427
NM_000368
NM_001162426		c.C1055T
c.C1208T
c.C1205T		p.S352L
p.S403L
p.S402L		15.214.0E-4Schaaf2011 T
TSC1     2-0127-004chr9:
135796366-135796366		TCintronicDe novo--Trost2022 G
Yuen2017 G
TSC1     SP0097400chr9:
135773000-135773000		GAintronicDe novo--Trost2022 G
TSC1     Schaaf2011:67chr9:
135786451-135786451		GTexonicUnknownnonsynonymous SNVNM_001162427
NM_000368
NM_001162426		c.C926A
c.C1079A
c.C1079A		p.T309N
p.T360N
p.T360N		22.26.0E-4Schaaf2011 T
TSC1     SP0101751chr9:
135773000-135773000		GAintronicDe novo--Trost2022 G
TSC1     Schaaf2011:64chr9:
135781287-135781287		CTexonicUnknownnonsynonymous SNVNM_001162427
NM_000368
NM_001162426		c.G1525A
c.G1678A
c.G1675A		p.G509S
p.G560S
p.G559S		15.288.248E-6Schaaf2011 T
TSC1     SP0136750chr9:
135773000-135773000		GAintronicDe novo--Trost2022 G
TSC1     Schaaf2011:65chr9:
135782214-135782214		GAexonicUnknownnonsynonymous SNVNM_001162427
NM_000368
NM_001162426		c.C1189T
c.C1342T
c.C1339T		p.P397S
p.P448S
p.P447S		1.530.001Schaaf2011 T
TSC1     SP0151012chr9:
135773000-135773000		GAintronicDe novo--Trost2022 G
TSC1     Schaaf2011:70chr9:
135800991-135800991		ACexonicUnknownnonsynonymous SNVNM_000368
NM_001162426		c.T346G
c.T346G		p.L116V
p.L116V		18.043.0E-4Schaaf2011 T
TSC1     SP0107614chr9:
135773000-135773000		GAintronicDe novo--Trost2022 G
TSC1     SP0133627chr9:
135773000-135773000		GAintronicDe novo--Trost2022 G
TSC1     Schaaf2011:68chr9:
135786863-135786863		GAexonicUnknownnonsynonymous SNVNM_001162427
NM_000368
NM_001162426		c.C853T
c.C1006T
c.C1006T		p.R285W
p.R336W
p.R336W		15.595.766E-5Schaaf2011 T
TSC1     SP0078451chr9:
135773000-135773000		GAintronicDe novo--Trost2022 G
TSC1     Schaaf2011:69chr9:
135786868-135786868		GAexonicUnknownnonsynonymous SNVNM_001162427
NM_000368
NM_001162426		c.C848T
c.C1001T
c.C1001T		p.S283L
p.S334L
p.S334L		13.495.0E-4Schaaf2011 T
TSC1     SP0101498chr9:
135773000-135773000		GAintronicDe novo--Trost2022 G
TSC1     SP0036128chr9:
135781567-135781567		TGintronicDe novo--Trost2022 G
TSC1     SP0037923chr9:
135781567-135781567		TGintronicDe novo--Trost2022 G
TSC1     SP0032556chr9:
135781567-135781567		TGintronicDe novo--Trost2022 G
TSC1     SP0033571chr9:
135781567-135781567		TGintronicDe novo--Trost2022 G
TSC1     Chen2021:73chr9:
135779047-135779047		AACAexonicUnknownframeshift insertionNM_001162427
NM_000368
NM_001162426		c.2045_2046insTG
c.2198_2199insTG
c.2195_2196insTG		p.N682fs
p.N733fs
p.N732fs		--Chen2021 GET
TSC1     SP0010928chr9:
135781567-135781567		TGintronicDe novo--Trost2022 G
TSC1     SP0023236chr9:
135781567-135781567		TGintronicDe novo--Trost2022 G
TSC1     SP0100208chr9:
135772901-135772901		GAexonicDe novononsynonymous SNVNM_001162427
NM_000368
NM_001162426		c.C2569T
c.C2722T
c.C2719T		p.R857W
p.R908W
p.R907W		19.92.476E-5Fu2022 E
Trost2022 G
Zhou2022 GE
TSC1     SP0195359chr9:
135773000-135773000		GAintronicDe novo--Trost2022 G
TSC1     SP0240506chr9:
135773000-135773000		GAintronicDe novo--Trost2022 G
TSC1     SP0011006chr9:
135781567-135781567		TGintronicDe novo--Trost2022 G
TSC1     Mahjani2021:97chr9:
135772850-135772850		CAexonicstopgainNM_001162427
NM_000368
NM_001162426		c.G2620T
c.G2773T
c.G2770T		p.E874X
p.E925X
p.E924X		42.0-Mahjani2021 E
TSC1     SP0103327chr9:
135781567-135781567		TGintronicDe novo--Trost2022 G
TSC1     SP0117913chr9:
135781567-135781567		TGintronicDe novo--Trost2022 G
TSC1     SP0120891chr9:
135781567-135781567		TGintronicDe novo--Trost2022 G
TSC1     SP0099060chr9:
135781567-135781567		TGintronicDe novo--Trost2022 G
TSC1     SP0116126chr9:
135781567-135781567		TGintronicDe novo--Trost2022 G
TSC1     SP0084700chr9:
135781567-135781567		TGintronicDe novo--Trost2022 G
TSC1     SP0084859chr9:
135781567-135781567		TGintronicDe novo--Trost2022 G
TSC1     REACH000239chr9:
135784042-135784042		CTintronicDe novo--Trost2022 G
TSC1     AU2448301chr9:
135818765-135818765		GAintronicDe novo--Trost2022 G
TSC1     SP0236102 Complex Event; expand row to view variants  De novo--Trost2022 G
Trost2022 G
TSC1     SP0249763chr9:
135781567-135781567		TGintronicDe novo--Trost2022 G
TSC1     SP0167823chr9:
135781567-135781567		TGintronicDe novo--Trost2022 G
TSC1     SP0232017chr9:
135781567-135781567		TGintronicDe novo--Trost2022 G
TSC1     SP0137397chr9:
135781567-135781567		TGintronicDe novo--Trost2022 G
TSC1     SP0145951 Complex Event; expand row to view variants  De novo--Trost2022 G
Trost2022 G
TSC1     Schaaf2011:98chr9:
135772007-135772007		CCCTGexonicUnknownnonframeshift insertionNM_001162427
NM_000368
NM_001162426		c.2956_2957insCAG
c.3109_3110insCAG
c.3106_3107insCAG		p.G986delinsAG
p.G1037delinsAG
p.G1036delinsAG		--Schaaf2011 T
TSC1     mAGRE5766chr9:
135804341-135804341		TCsplicingMaternalsplicing--Cirnigliaro2023 G
TSC1     D’Gama2015:5176chr9:
135772049-135772049		GAexonicUnknownnonsynonymous SNVNM_001162427
NM_000368
NM_001162426		c.C2915T
c.C3068T
c.C3065T		p.P972L
p.P1023L
p.P1022L		13.86-D’Gama2015 T
TSC1     AU3900302chr9:
135810951-135810951		GAintronicDe novo--Trost2022 G
Yuen2017 G
TSC1     mAGRE5767chr9:
135804341-135804341		TCsplicingMaternalsplicing--Cirnigliaro2023 G
TSC1     M0320chr9:
135796751-135796765		TTCGAGGGTCCAGTTTexonicMaternalframeshift deletionNM_001162427
NM_000368
NM_001162426		c.569_582del
c.722_735del
c.722_735del		p.E190fs
p.E241fs
p.E241fs		--Xiong2019 ET
TSC1     M0321chr9:
135779047-135779047		AACAexonicUnknownframeshift insertionNM_001162427
NM_000368
NM_001162426		c.2045_2046insTG
c.2198_2199insTG
c.2195_2196insTG		p.N682fs
p.N733fs
p.N732fs		--Xiong2019 ET
Source Variant Information

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Paper alias:

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Paper Information
Title
Authors
Technology
Variant source
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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.
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