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Results for "TSC1"

Variant Events: 19

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     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     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     2-0127-004chr9:
135796366-135796366
TCintronicDe novo--Yuen2017 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     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     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     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     Schaaf2011:70chr9:
135800991-135800991
ACexonicUnknownnonsynonymous SNVNM_000368
NM_001162426
c.T346G
c.T346G
p.L116V
p.L116V
18.043.0E-4Schaaf2011 T
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     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     AU3900302chr9:
135810951-135810951
GAintronicDe novo--Yuen2017 G
TSC1     5-0074-003chr9:
135774614-135774614
GAintronicDe novo--Yuen2017 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     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     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     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     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     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     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
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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