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Results for "TMTC2"

Variant Events: 126

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
TMTC2     12529.p1chr12:
83858993-83858993
TCintergenicDe novo--Turner2016 G
TMTC2     2-1252-003chr12:
83289517-83289517
TAintronicDe novo--Yuen2017 G
TMTC2     2-1308-003chr12:
84369549-84369549
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
TMTC2     12011.p1chr12:
84243312-84243312
CTintergenicDe novo--Turner2016 G
TMTC2     AU1635302chr12:
83387216-83387216
CTintronicDe novo--Yuen2017 G
TMTC2     2-1210-003chr12:
84177501-84177501
CTintergenicDe novo--Yuen2017 G
TMTC2     AU2950302chr12:
84789177-84789177
GCintergenicDe novo--Yuen2017 G
TMTC2     1-0473-003chr12:
85155827-85155827
GAintergenicDe novo--Yuen2017 G
TMTC2     AU4228302chr12:
84426922-84426922
AGintergenicDe novo--Yuen2017 G
TMTC2     2-1505-003chr12:
83710371-83710371
ACintergenicDe novo--Yuen2017 G
TMTC2     5-0040-003chr12:
83568280-83568280
AGintergenicDe novo--Yuen2017 G
TMTC2     2-1605-004chr12:
83898954-83898954
GAintergenicDe novo--Yuen2017 G
TMTC2     AU1725306chr12:
83645919-83645919
GTintergenicDe novo--Yuen2017 G
TMTC2     AU4159302chr12:
84861143-84861145
CTTCintergenicDe novo--Yuen2017 G
TMTC2     1-0395-004chr12:
84894218-84894218
TGintergenicDe novo--Yuen2017 G
TMTC2     1-0998-003chr12:
84650102-84650102
AGintergenicDe novo--Yuen2017 G
TMTC2     AU031004chr12:
83686266-83686266
CTintergenicDe novo--Yuen2017 G
TMTC2     AU4314302chr12:
84056590-84056590
ACintergenicDe novo--Yuen2017 G
TMTC2     1-0998-003chr12:
83940540-83940540
CTintergenicDe novo--Yuen2017 G
TMTC2     1-0259-003chr12:
83129406-83129406
GTintronicDe novo--Yuen2017 G
TMTC2     2-0300-003chr12:
85155846-85155846
CAintergenicDe novo--Yuen2017 G
TMTC2     AU3787302chr12:
84000868-84000868
CTintergenicDe novo--Yuen2017 G
TMTC2     1-0579-003chr12:
84416195-84416195
CTintergenicDe novo--Yuen2017 G
TMTC2     AU063005chr12:
83106928-83106928
GAintronicDe novo--Yuen2017 G
TMTC2     A10chr12:
84135418-84135418
AGintergenicDe novo--Wu2018 G
TMTC2     AU3997302chr12:
83978610-83978610
CTintergenicDe novo--Yuen2017 G
TMTC2     1-0627-007chr12:
84219728-84219728
GTintergenicDe novo--Yuen2017 G
TMTC2     AU3905302chr12:
83828329-83828333
GTAGCGTAGCTAGCintergenicDe novo--Yuen2017 G
TMTC2     2-1235-003chr12:
85155519-85155519
TCintergenicDe novo--Yuen2017 G
TMTC2     2-1277-003chr12:
84900284-84900284
CTintergenicDe novo--Yuen2017 G
TMTC2     AU4079301chr12:
83946829-83946829
GTintergenicDe novo--Yuen2017 G
TMTC2     2-1485-004chr12:
83638795-83638795
TAintergenicDe novo--Yuen2017 G
TMTC2     AU3782302chr12:
85182180-85182180
TCintergenicDe novo--Yuen2017 G
TMTC2     63-343chr12:
85184869-85184869
GAintergenicDe novo--Michaelson2012 G
TMTC2     AU4452302chr12:
83090614-83090614
AGintronicDe novo--Yuen2017 G
TMTC2     7-0100-004chr12:
83542294-83542294
AGintergenicDe novo--Yuen2017 G
TMTC2     1-0640-003chr12:
83564356-83564364
TTCTTCTCTTTCTintergenicDe novo--Yuen2017 G
TMTC2     7-0100-004chr12:
85155846-85155846
CAintergenicDe novo--Yuen2017 G
TMTC2     1-0965-003chr12:
84410237-84410237
CTintergenicDe novo--Yuen2017 G
TMTC2     2-1645-003chr12:
84158262-84158262
CAintergenicDe novo--Yuen2017 G
TMTC2     AU051503chr12:
84221628-84221628
CTintergenicDe novo--Yuen2017 G
TMTC2     2-1288-003chr12:
84837381-84837381
GAintergenicDe novo--Yuen2017 G
TMTC2     1-0160-004chr12:
83749973-83749973
CAintergenicDe novo--Yuen2017 G
TMTC2     1-0469-003chr12:
84222213-84222213
GGAintergenicDe novo--Yuen2017 G
TMTC2     1-0469-003chr12:
83513352-83513352
GAintronicDe novo--Yuen2017 G
TMTC2     2-1567-004chr12:
85155827-85155827
GAintergenicDe novo--Yuen2017 G
TMTC2     1-0495-003chr12:
83410574-83410574
GAintronicDe novo--Yuen2017 G
TMTC2     AU2792302chr12:
84952834-84952834
CTintergenicDe novo--Yuen2017 G
TMTC2     A5chr12:
83122546-83122546
GAintronicDe novo--Wu2018 G
TMTC2     1-0400-003chr12:
83381343-83381343
GAintronicDe novo--Yuen2016 G
Yuen2017 G
TMTC2     2-1212-003chr12:
83263333-83263333
TCintronicDe novo--Yuen2017 G
TMTC2     2-1299-003chr12:
83129346-83129346
GAintronicDe novo--Yuen2017 G
TMTC2     2-1456-004chr12:
85155827-85155827
GAintergenicDe novo--Yuen2017 G
TMTC2     AU024608chr12:
85162646-85162646
AGintergenicDe novo--Yuen2017 G
TMTC2     AU3727303chr12:
83558637-83558637
GTintergenicDe novo--Yuen2017 G
TMTC2     2-0022-005chr12:
83936151-83936151
TCintergenicDe novo--Yuen2017 G
TMTC2     AU3517301chr12:
85018741-85018741
AGintergenicDe novo--Yuen2017 G
TMTC2     2-1501-003chr12:
84408325-84408325
AGintergenicDe novo--Yuen2017 G
TMTC2     5-0073-003chr12:
85003681-85003681
AGintergenicDe novo--Yuen2017 G
TMTC2     AU1795303chr12:
84501611-84501611
ACintergenicDe novo--Yuen2017 G
TMTC2     2-0019-004chr12:
84973212-84973212
AGintergenicDe novo--Yuen2017 G
TMTC2     AU3632301chr12:
83558173-83558175
GCCGCintergenicDe novo--Yuen2017 G
TMTC2     7-0219-003chr12:
84078131-84078131
CAintergenicDe novo--Yuen2017 G
TMTC2     AU3125301chr12:
84268004-84268004
GCintergenicDe novo--Yuen2017 G
TMTC2     AU3713301chr12:
84215862-84215870
GAGTATAAGGAGintergenicDe novo--Yuen2017 G
TMTC2     3-0111-000chr12:
83707404-83707404
CAintergenicDe novo--Yuen2016 G
TMTC2     2-1399-003chr12:
83378696-83378696
CTintronicDe novo--Yuen2017 G
TMTC2     A16chr12:
85170107-85170110
TGAGTintergenicDe novo--Wu2018 G
TMTC2     5-0015-004chr12:
84494936-84494936
CTintergenicDe novo--Yuen2017 G
TMTC2     AU4284301chr12:
85205152-85205154
GCCGCintergenicDe novo--Yuen2017 G
TMTC2     AU030804chr12:
84490378-84490378
GAintergenicDe novo--Yuen2017 G
TMTC2     1-0756-005chr12:
83482527-83482527
AGintronicDe novo--Yuen2017 G
TMTC2     2-0278-003chr12:
84699227-84699227
CTintergenicDe novo--Yuen2017 G
TMTC2     2-0300-004chr12:
84327654-84327654
CTintergenicDe novo--Yuen2017 G
TMTC2     5-0116-003chr12:
84356570-84356570
CGintergenicDe novo--Yuen2017 G
TMTC2     1-0972-003chr12:
83978968-83978968
CTintergenicDe novo--Yuen2017 G
TMTC2     1-0148-005chr12:
84234075-84234075
CGintergenicDe novo--Yuen2017 G
TMTC2     2-1189-003chr12:
84342177-84342177
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
TMTC2     AU3721302chr12:
83183669-83183669
TCintronicDe novo--Yuen2017 G
TMTC2     2-1738-003chr12:
84294447-84294447
CTintergenicDe novo--Yuen2017 G
TMTC2     2-1169-003chr12:
83244201-83244201
GAintronicDe novo--Yuen2017 G
TMTC2     100-07-107879chr12:
83290288-83290288
GAexonicDe novononsynonymous SNVNM_152588c.G1346Ap.R449Q13.16-Satterstrom2020 E
TMTC2     2-0309-005chr12:
83551200-83551200
AGintergenicDe novo--Yuen2017 G
TMTC2     AU3398301chr12:
84946953-84946953
GTintergenicDe novo--Yuen2017 G
TMTC2     AU4079302chr12:
83524767-83524767
GAintronicDe novo--Yuen2017 G
TMTC2     1-0344-003chr12:
84136455-84136455
AGintergenicDe novo--Yuen2017 G
TMTC2     AU070703chr12:
83650982-83650982
CAintergenicDe novo--Yuen2017 G
TMTC2     2-0295-003chr12:
84368243-84368243
ATintergenicDe novo--Yuen2017 G
TMTC2     1-0882-003chr12:
85098678-85098678
ACintergenicDe novo--Yuen2017 G
TMTC2     1-0344-003chr12:
84934315-84934315
TGintergenicDe novo--Yuen2017 G
TMTC2     7-0253-004chr12:
84951687-84951687
CGintergenicDe novo--Yuen2017 G
TMTC2     7-0254-004chr12:
83608241-83608241
AGintergenicDe novo--Yuen2017 G
TMTC2     1-0389-004chr12:
84423813-84423813
TCintergenicDe novo--Yuen2017 G
TMTC2     1-0481-003chr12:
83118156-83118156
CTintronicDe novo--Yuen2017 G
TMTC2     1-0104-003chr12:
85155827-85155827
GAintergenicDe novo--Yuen2017 G
TMTC2     1-0104-003chr12:
85083009-85083020
CAAGATACAGTTCintergenicDe novo--Yuen2017 G
TMTC2     AU3730301 Complex Event; expand row to view variants  De novo--Yuen2017 G
Yuen2017 G
TMTC2     AU4129303chr12:
83295195-83295195
GTintronicDe novo--Yuen2017 G
TMTC2     1-0395-003chr12:
84894218-84894218
TGintergenicDe novo--Yuen2017 G
TMTC2     AU3905301chr12:
84439709-84439709
GAintergenicDe novo--Yuen2017 G
TMTC2     2-1620-004chr12:
84699796-84699798
TTGTintergenicDe novo--Yuen2017 G
TMTC2     1-0144-004chr12:
83350589-83350589
AGintronicDe novo--Yuen2017 G
TMTC2     2-1460-003chr12:
83224946-83224946
GAintronicDe novo--Yuen2017 G
TMTC2     1-0357-003chr12:
83645994-83645994
AGintergenicDe novo--Yuen2017 G
TMTC2     AU076808chr12:
83350075-83350091
AATATATATATATATATAATATATATATATATATATintronicDe novo--Yuen2017 G
TMTC2     A8chr12:
84041781-84041781
GCintergenicDe novo--Wu2018 G
TMTC2     2-0070-004chr12:
84250341-84250341
AGintergenicDe novo--Yuen2017 G
TMTC2     2-0272-004chr12:
83810122-83810122
GAintergenicDe novo--Yuen2017 G
TMTC2     2-1485-003chr12:
83638795-83638795
TAintergenicDe novo--Yuen2017 G
TMTC2     2-1334-003chr12:
84658463-84658463
GCintergenicDe novo--Yuen2016 G
Yuen2017 G
TMTC2     AU2787302chr12:
83535580-83535580
GAintergenicDe novo--Yuen2017 G
TMTC2     1-0044-003chr12:
84056613-84056613
GAintergenicDe novo--Yuen2017 G
TMTC2     2-1255-003chr12:
84624016-84624016
GCintergenicDe novo--Yuen2016 G
Yuen2017 G
TMTC2     2-1322-003chr12:
83895675-83895675
GAintergenicDe novo--Yuen2017 G
TMTC2     7-0251-003chr12:
84435757-84435757
CTintergenicDe novo--Yuen2017 G
TMTC2     2-0012-003chr12:
83826354-83826354
GTintergenicDe novo--Yuen2017 G
TMTC2     1-0627-003chr12:
84389699-84389699
GAintergenicDe novo--Yuen2017 G
TMTC2     2-1140-003chr12:
84453592-84453592
CAintergenicDe novo--Yuen2017 G
TMTC2     AU4013303chr12:
84988653-84988653
CTintergenicDe novo--Yuen2017 G
TMTC2     AU4191302chr12:
84716955-84716955
TCintergenicDe novo--Yuen2017 G
TMTC2     AU015903chr12:
84807996-84808011
TTCTCTCTCTCTCTCTTTCTCTCTCTCTCTintergenicDe novo--Yuen2017 G
TMTC2     AU2495301chr12:
84540616-84540616
CAintergenicDe novo--Yuen2017 G
TMTC2     AU3881301chr12:
83817693-83817693
GCintergenicDe novo--Yuen2017 G
TMTC2     5-0103-003chr12:
85204151-85204151
ATintergenicDe novo--Yuen2017 G
TMTC2     AU3760301chr12:
83962994-83962994
CGintergenicDe novo--Yuen2017 G
TMTC2     NDAR_INVVH064RG2_wes1chr12:
83289555-83289555
TCintronicDe novo--Kosmicki2017 E
Satterstrom2020 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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