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Results for "TPK1"

Variant Events: 82

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
TPK1     AU076704chr7:
144357293-144357293
TCintronicDe novo--Yuen2017 G
TPK1     2-0063-005chr7:
144879167-144879167
GAintergenicDe novo--Yuen2017 G
TPK1     AU1933302chr7:
144309749-144309756
GATTTATTGATTintronicDe novo--Yuen2017 G
TPK1     2-1251-003chr7:
144569587-144569587
TGintergenicDe novo--Yuen2017 G
TPK1     1-0272-003chr7:
144669032-144669032
TGintergenicDe novo--Yuen2017 G
TPK1     2-1230-003chr7:
144828250-144828250
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
TPK1     1-0469-005chr7:
145425773-145425773
TTATCACCintergenicDe novo--Yuen2017 G
TPK1     1-0485-003chr7:
144767241-144767241
CGintergenicDe novo--Yuen2017 G
TPK1     AU4234302chr7:
144255945-144255945
CTintronicDe novo--Yuen2017 G
TPK1     1-0412-003chr7:
144978159-144978159
AATTATintergenicDe novo--Yuen2017 G
TPK1     7-0151-003chr7:
145163748-145163748
CTintergenicDe novo--Yuen2017 G
TPK1     AU2787301chr7:
145492781-145492781
TGintergenicDe novo--Yuen2017 G
TPK1     AU066404chr7:
145778943-145778945
ACCACintergenicDe novo--Yuen2017 G
TPK1     AU2988302chr7:
145082022-145082022
ACintergenicDe novo--Yuen2017 G
TPK1     5-0054-003chr7:
145113935-145113935
ACintergenicDe novo--Yuen2017 G
TPK1     AU3809302chr7:
144862806-144862806
TAintergenicDe novo--Yuen2017 G
TPK1     1-0252-003chr7:
144413174-144413174
TCintronicDe novo--Yuen2017 G
TPK1     2-1366-004chr7:
144489756-144489756
CTintronicDe novo--Yuen2017 G
TPK1     AU024607chr7:
144823607-144823607
CTintergenicDe novo--Yuen2017 G
TPK1     1-0352-005chr7:
145230055-145230055
CTintergenicDe novo--Yuen2017 G
TPK1     3-0111-000chr7:
144913921-144913921
GAintergenicDe novo--Yuen2016 G
TPK1     1-0277-003chr7:
144935905-144935905
CAintergenicDe novo--Yuen2017 G
TPK1     7-0167-003chr7:
145333828-145333828
TAintergenicDe novo--Yuen2017 G
TPK1     AU4239301chr7:
145249746-145249746
CGintergenicDe novo--Yuen2017 G
TPK1     1-0417-003chr7:
145666875-145666875
AGintergenicDe novo--Yuen2017 G
TPK1     AU4033305chr7:
144532551-144532551
GCintronicDe novo--Yuen2017 G
TPK1     1-0539-003chr7:
145806055-145806055
ATintergenicDe novo--Yuen2017 G
TPK1     1-0150-004chr7:
144475331-144475331
CCCAGintronicDe novo--Yuen2017 G
TPK1     AU4327303chr7:
145624483-145624483
CTintergenicDe novo--Yuen2017 G
TPK1     5-0030-003chr7:
144653280-144653280
GGTTAACTCAGTATGTintergenicDe novo--Yuen2017 G
TPK1     3-0209-000chr7:
145112491-145112491
AGintergenicDe novo--Yuen2017 G
TPK1     AU3263301chr7:
145278068-145278068
AGintergenicDe novo--Yuen2017 G
TPK1     2-1518-003chr7:
145018389-145018389
TCintergenicDe novo--Yuen2017 G
TPK1     2-1518-003chr7:
144320333-144320333
GTexonicDe novononsynonymous SNVNM_001042482
NM_022445
c.C280A
c.C280A
p.P94T
p.P94T
15.51-Yuen2017 G
TPK1     A31chr7:
144270684-144270684
AGintronicDe novo--Wu2018 G
TPK1     1-0271-003chr7:
145459923-145459923
AGintergenicDe novo--Yuen2017 G
TPK1     2-1292-004chr7:
144893137-144893137
TTGintergenicDe novo--Yuen2017 G
TPK1     1-0022-003chr7:
144678562-144678562
TCintergenicDe novo--Yuen2016 G
TPK1     AU3175302chr7:
145228271-145228271
AGintergenicDe novo--Yuen2017 G
TPK1     1-0150-003chr7:
145800186-145800186
CTintergenicDe novo--Yuen2017 G
TPK1     1-0004-003chr7:
145487475-145487475
CGintergenicDe novo--Yuen2017 G
TPK1     1-0595-005chr7:
144188784-144188784
AGintronicDe novo--Yuen2017 G
TPK1     13063.p1chr7:
144150703-144150703
CTexonicDe novononsynonymous SNVNM_001042482
NM_022445
c.G520A
c.G667A
p.G174R
p.G223R
29.75.769E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
TPK1     2-0149-005chr7:
145531571-145531571
AGintergenicDe novo--Yuen2017 G
TPK1     2-1085-004chr7:
144311167-144311167
CAintronicDe novo--Yuen2017 G
TPK1     2-1501-003chr7:
144390372-144390372
TCintronicDe novo--Yuen2017 G
TPK1     AU4067303chr7:
145333460-145333460
TCintergenicDe novo--Yuen2017 G
TPK1     1-0067-004chr7:
144438508-144438508
CGintronicDe novo--Yuen2017 G
TPK1     1-0674-004chr7:
144241081-144241081
GTintronicDe novo--Yuen2017 G
TPK1     AU1308303chr7:
145112230-145112230
GAintergenicDe novo--Yuen2017 G
TPK1     2-0063-003chr7:
144879167-144879167
GAintergenicDe novo--Yuen2017 G
TPK1     2-0149-004chr7:
144536293-144536293
CTintergenicDe novo--Yuen2017 G
TPK1     2-1632-003chr7:
144328245-144328245
TAintronicDe novo--Yuen2017 G
TPK1     1-0099-003chr7:
145056833-145056833
GAintergenicDe novo--Yuen2017 G
TPK1     1-0935-003chr7:
144828209-144828209
GCintergenicDe novo--Yuen2017 G
TPK1     AU2988303chr7:
145082022-145082022
ACintergenicDe novo--Yuen2017 G
TPK1     1-0701-003chr7:
145331127-145331127
TAintergenicDe novo--Yuen2017 G
TPK1     AU039304chr7:
144663652-144663652
AGintergenicDe novo--Yuen2017 G
TPK1     AU3765302chr7:
144249530-144249530
AGintronicDe novo--Yuen2017 G
TPK1     AU2089301chr7:
144251682-144251682
CTintronicDe novo--Yuen2017 G
TPK1     AU2072302chr7:
144305474-144305474
TCintronicDe novo--Yuen2017 G
TPK1     AU4029301chr7:
145550620-145550620
AGintergenicDe novo--Yuen2017 G
TPK1     AU3861301chr7:
145467107-145467107
TCintergenicDe novo--Yuen2017 G
TPK1     1-0715-003chr7:
144643572-144643572
TGintergenicDe novo--Yuen2017 G
TPK1     2-0214-003chr7:
145756074-145756074
ATintergenicDe novo--Yuen2017 G
TPK1     1-0232-004chr7:
144515463-144515463
GAintronicDe novo--Yuen2017 G
TPK1     1-0051-005chr7:
145484747-145484747
CTintergenicDe novo--Yuen2017 G
TPK1     2-1085-003chr7:
144311167-144311167
CAintronicDe novo--Yuen2017 G
TPK1     2-1343-003chr7:
145771985-145771985
CGintergenicDe novo--Yuen2016 G
Yuen2017 G
TPK1     5-0148-003chr7:
144695020-144695020
TCintergenicDe novo--Yuen2017 G
TPK1     2-1411-003chr7:
144680051-144680051
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
TPK1     1-1004-003chr7:
145397693-145397693
AGintergenicDe novo--Yuen2017 G
TPK1     2-1222-003chr7:
144783532-144783532
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
TPK1     1-0022-004chr7:
144678562-144678562
TCintergenicDe novo--Yuen2017 G
TPK1     5-0025-004chr7:
144757068-144757068
GGGGAintergenicDe novo--Yuen2017 G
TPK1     2-1241-003chr7:
145365147-145365147
GAintergenicDe novo--Yuen2017 G
TPK1     1-0197-003chr7:
145727816-145727816
CTintergenicDe novo--Yuen2017 G
TPK1     1-0352-003chr7:
145230055-145230055
CTintergenicDe novo--Yuen2016 G
TPK1     1-0141-003chr7:
145315891-145315891
ATintergenicDe novo--Yuen2017 G
TPK1     1-0197-003chr7:
145431297-145431297
GCintergenicDe novo--Yuen2017 G
TPK1     AU3847302chr7:
144365514-144365514
GAintronicDe novo--Yuen2017 G
TPK1     7-0140-003chr7:
144927275-144927275
CGintergenicDe novo--Yuen2017 G
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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