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Results for "TNRC6B"

Variant Events: 60

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
TNRC6B     7-0001-003chr22:
40538792-40538792
AGintronicDe novo--Yuen2017 G
TNRC6B     1428chr22:
40657841-40657841
GAexonicPaternalnonsynonymous SNVNM_001162501
NM_015088
NM_001024843
c.G121A
c.G121A
c.G229A
p.E41K
p.E41K
p.E77K
32.0-Wang2020 T
Wang2020 T
TNRC6B     12673.p1chr22:
40661586-40661590
AAGAGAexonicDe novoframeshift deletionNM_001162501
NM_015088
c.1353_1356del
c.1353_1356del
p.K451fs
p.K451fs
--Dong2014 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
TNRC6B     2-0503-004chr22:
40714322-40714322
CTintronicDe novo--Yuen2017 G
TNRC6B     SSC11085chr22:
40662713-40662713
CTexonicDe novostopgainNM_001162501
NM_015088
c.C2479T
c.C2479T
p.Q827X
p.Q827X
39.0-Lim2017 E
TNRC6B     AU043805chr22:
40669454-40669454
GTexonicUnknownnonsynonymous SNVNM_015088
NM_001162501
NM_001024843
c.G2832T
c.G2991T
c.G750T
p.W944C
p.W997C
p.W250C
26.25.546E-5Wang2020 T
Wang2020 T
TNRC6B     AU043806chr22:
40669454-40669454
GTexonicUnknownnonsynonymous SNVNM_015088
NM_001162501
NM_001024843
c.G2832T
c.G2991T
c.G750T
p.W944C
p.W997C
p.W250C
26.25.546E-5Wang2020 T
Wang2020 T
Wang2020 T
TNRC6B     HN0114.p1chr22:
40669453-40669453
GTexonicUnknownnonsynonymous SNVNM_015088
NM_001162501
NM_001024843
c.G2831T
c.G2990T
c.G749T
p.W944L
p.W997L
p.W250L
34.0-Wang2020 T
Wang2020 T
TNRC6B     14163.p1chr22:
40662713-40662713
CTexonicDe novostopgainNM_001162501
NM_015088
c.C2479T
c.C2479T
p.Q827X
p.Q827X
39.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
TNRC6B     1-0450-003chr22:
40454117-40454117
AGintronicDe novo--Yuen2017 G
TNRC6B     2-0503-003chr22:
40714322-40714322
CTintronicDe novo--Yuen2017 G
TNRC6B     1-0701-003chr22:
40547440-40547440
AGintronicDe novo--Yuen2017 G
TNRC6B     GX0159.p1chr22:
40662113-40662113
CTexonicDe novostopgainNM_001162501
NM_015088
c.C1879T
c.C1879T
p.Q627X
p.Q627X
39.0-Guo2018 T
Wang2020 T
Wang2020 T
TNRC6B     AU2109301chr22:
40570230-40570230
CTintronicDe novo--Yuen2017 G
TNRC6B     M30985chr22:
40711475-40711476
AGAexonicDe novoframeshift deletionNM_015088
NM_001162501
NM_001024843
c.4538delG
c.4868delG
c.2456delG
p.R1513fs
p.R1623fs
p.R819fs
--Guo2018 T
Wang2020 T
Wang2020 T
TNRC6B     HEN0265.p1chr22:
40661513-40661513
GAexonicMaternalnonsynonymous SNVNM_001162501
NM_015088
c.G1279A
c.G1279A
p.A427T
p.A427T
0.6638.32E-6Guo2018 T
TNRC6B     HEN0270.p1chr22:
40696576-40696576
CTexonicMaternalnonsynonymous SNVNM_015088
NM_001162501
NM_001024843
c.C3496T
c.C3826T
c.C1414T
p.P1166S
p.P1276S
p.P472S
13.61-Guo2018 T
TNRC6B     JS0058.p1chr22:
40681704-40681704
CTexonicMaternalnonsynonymous SNVNM_015088
NM_001162501
NM_001024843
c.C3308T
c.C3638T
c.C1226T
p.T1103I
p.T1213I
p.T409I
23.5-Guo2018 T
TNRC6B     07C69977chr22:
40661634-40661634
GAexonicDe novononsynonymous SNVNM_001162501
NM_015088
c.G1400A
c.G1400A
p.G467E
p.G467E
15.83-Satterstrom2020 E
TNRC6B     HN0078.p1chr22:
40661049-40661049
AGexonicPaternalnonsynonymous SNVNM_001162501
NM_015088
c.A815G
c.A815G
p.N272S
p.N272S
0.036-Guo2018 T
TNRC6B     GX0279.p1chr22:
40676052-40676052
GAexonicMaternalnonsynonymous SNVNM_015088
NM_001162501
NM_001024843
c.G3157A
c.G3316A
c.G1075A
p.D1053N
p.D1106N
p.D359N
31.0-Guo2018 T
Guo2018 T
TNRC6B     M08473chr22:
40718941-40718941
CTexonicPaternalnonsynonymous SNVNM_015088
NM_001162501
NM_001024843
c.C4868T
c.C5198T
c.C2786T
p.P1623L
p.P1733L
p.P929L
10.769.133E-6Guo2018 T
TNRC6B     217-14007-160chr22:
40662815-40662815
GAexonicUnknownnonsynonymous SNVNM_001162501
NM_015088
c.G2581A
c.G2581A
p.G861R
p.G861R
31.03.339E-5Stessman2017 T
Wang2020 T
Wang2020 T
TNRC6B     M21639chr22:
40657901-40657901
TC/TexonicPaternal--Guo2018 T
TNRC6B     HN0057.p1chr22:
40662795-40662795
CTexonicPaternalnonsynonymous SNVNM_001162501
NM_015088
c.C2561T
c.C2561T
p.S854F
p.S854F
18.92-Guo2018 T
TNRC6B     GX0315.p1chr22:
40662575-40662575
GAexonicPaternalnonsynonymous SNVNM_001162501
NM_015088
c.G2341A
c.G2341A
p.G781R
p.G781R
14.37-Guo2018 T
TNRC6B     M27809chr22:
40661438-40661438
ATexonicPaternalnonsynonymous SNVNM_001162501
NM_015088
c.A1204T
c.A1204T
p.N402Y
p.N402Y
0.341-Guo2018 T
TNRC6B     GX0080.p1chr22:
40718984-40718984
GTexonicPaternalnonsynonymous SNVNM_015088
NM_001162501
NM_001024843
c.G4911T
c.G5241T
c.G2829T
p.Q1637H
p.Q1747H
p.Q943H
14.241.047E-5Guo2018 T
TNRC6B     M11415chr22:
40660940-40660940
AGexonicPaternalnonsynonymous SNVNM_001162501
NM_015088
c.A706G
c.A706G
p.T236A
p.T236A
1.6131.66E-5Guo2018 T
TNRC6B     HN0013.p1chr22:
40717206-40717206
CTexonicPaternalnonsynonymous SNVNM_015088
NM_001162501
NM_001024843
c.C4757T
c.C5087T
c.C2675T
p.A1586V
p.A1696V
p.A892V
19.86-Guo2018 T
TNRC6B     AU2156303chr22:
40581353-40581353
AGintronicDe novo--Yuen2017 G
TNRC6B     M19560chr22:
40711976-40711976
GAexonicUnknownnonsynonymous SNVNM_015088
NM_001162501
NM_001024843
c.G4604A
c.G4934A
c.G2522A
p.R1535H
p.R1645H
p.R841H
28.28.426E-6Stessman2017 T
Wang2020 T
Wang2020 T
TNRC6B     182.03chr22:
40552117-40552117
AGsplicingUnknownsplicing20.53.221E-5Wang2020 T
Wang2020 T
TNRC6B     86160678chr22:
40681756-40681758
CCACexonicUnknownframeshift deletionNM_015088
NM_001162501
NM_001024843
c.3361_3362del
c.3691_3692del
c.1279_1280del
p.Q1121fs
p.Q1231fs
p.Q427fs
--Wang2020 T
Wang2020 T
TNRC6B     Mahjani2021:105chr22:
40696585-40696585
CTexonicstopgainNM_015088
NM_001162501
NM_001024843
c.C3505T
c.C3835T
c.C1423T
p.Q1169X
p.Q1279X
p.Q475X
44.0-Mahjani2021 E
TNRC6B     3-0191-000chr22:
40660882-40660882
CGexonicDe novosynonymous SNVNM_001162501
NM_015088
c.C648G
c.C648G
p.T216T
p.T216T
--Tammimies2015 E
TNRC6B     300385chr22:
40711406-40711406
CTexonicUnknownnonsynonymous SNVNM_015088
NM_001162501
NM_001024843
c.C4468T
c.C4798T
c.C2386T
p.R1490C
p.R1600C
p.R796C
35.08.285E-6Stessman2017 T
Wang2020 T
Wang2020 T
TNRC6B     12449.p1chr22:
40560200-40560200
GAintronicDe novo--Turner2016 G
TNRC6B     12680.p1chr22:
40664896-40664896
GAintronicDe novo--Turner2016 G
TNRC6B     AU060803chr22:
40694661-40694661
TCintronicDe novo--Yuen2017 G
TNRC6B     3B334chr22:
40666138-40666138
GTexonicDe novononsynonymous SNVNM_001162501
NM_001024843
c.G2819T
c.G578T
p.S940I
p.S193I
20.9-Satterstrom2020 E
TNRC6B     SF0011919.p1chr22:
40662909-40662909
GAexonicDe novononsynonymous SNVNM_001162501
NM_015088
c.G2675A
c.G2675A
p.G892D
p.G892D
28.0-Wang2020 T
TNRC6B     SD0084.p1chr22:
40661089-40661089
GTexonicPaternalnonsynonymous SNVNM_001162501
NM_015088
c.G855T
c.G855T
p.R285S
p.R285S
3.397-Guo2018 T
TNRC6B     13034.p1chr22:
40727451-40727451
GCUTR3De novo--Wilfert2021 G
TNRC6B     211-5469-3chr22:
40708577-40708577
CTexonicMaternalnonsynonymous SNVNM_015088
NM_001162501
NM_001024843
c.C4174T
c.C4504T
c.C2092T
p.P1392S
p.P1502S
p.P698S
31.0-Stessman2017 T
Wang2020 T
Wang2020 T
TNRC6B     1329-13Dchr22:
40711475-40711476
AGAexonicUnknownframeshift deletionNM_015088
NM_001162501
NM_001024843
c.4538delG
c.4868delG
c.2456delG
p.R1513fs
p.R1623fs
p.R819fs
--Wang2020 T
TNRC6B     M12414chr22:
40661786-40661786
GAexonicMaternalnonsynonymous SNVNM_001162501
NM_015088
c.G1552A
c.G1552A
p.D518N
p.D518N
7.107-Guo2018 T
TNRC6B     GX0384.p1chr22:
40658058-40658058
CTexonicMaternalnonsynonymous SNVNM_001162501
NM_015088
NM_001024843
c.C338T
c.C338T
c.C446T
p.P113L
p.P113L
p.P149L
15.692.762E-5Guo2018 T
TNRC6B     AU2689306 Complex Event; expand row to view variants  De novoframeshift insertionNM_015088
NM_001162501
NM_001024843
c.2831dupG
c.2990dupG
c.749dupG
p.W944fs
p.W997fs
p.W250fs
--Stessman2017 T
Stessman2017 T
Wang2020 T
Wang2020 T
TNRC6B     GX0493.p1chr22:
40657967-40657967
GAexonicMaternalnonsynonymous SNVNM_001162501
NM_015088
NM_001024843
c.G247A
c.G247A
c.G355A
p.A83T
p.A83T
p.A119T
16.578.413E-5Guo2018 T
TNRC6B     HEN0167.p1chr22:
40718970-40718970
GCexonicPaternalnonsynonymous SNVNM_015088
NM_001162501
NM_001024843
c.G4897C
c.G5227C
c.G2815C
p.A1633P
p.A1743P
p.A939P
6.6751.0E-4Guo2018 T
TNRC6B     83371591chr22:
40681652-40681652
GTexonicUnknownnonsynonymous SNVNM_015088
NM_001162501
NM_001024843
c.G3256T
c.G3586T
c.G1174T
p.G1086C
p.G1196C
p.G392C
19.568.29E-6Wang2020 T
Wang2020 T
TNRC6B     GX0531.p1chr22:
40677193-40677193
CAexonicMaternalnonsynonymous SNVNM_001162501c.C3482Ap.S1161Y17.47-Guo2018 T
TNRC6B     1-0073-003chr22:
40575450-40575450
GAintronicDe novo--Yuen2017 G
TNRC6B     M30377chr22:
40660977-40660977
CTexonicMaternalnonsynonymous SNVNM_001162501
NM_015088
c.C743T
c.C743T
p.A248V
p.A248V
5.394-Guo2018 T
TNRC6B     08C74090chr22:
40681743-40681743
CTexonicMaternalnonsynonymous SNVNM_015088
NM_001162501
NM_001024843
c.C3347T
c.C3677T
c.C1265T
p.A1116V
p.A1226V
p.A422V
32.08.283E-6Wang2020 T
Wang2020 T
TNRC6B     M19649chr22:
40681709-40681709
GAexonicMaternalnonsynonymous SNVNM_015088
NM_001162501
NM_001024843
c.G3313A
c.G3643A
c.G1231A
p.V1105M
p.V1215M
p.V411M
25.28.283E-6Guo2018 T
TNRC6B     M08656chr22:
40669440-40669440
ATexonicMaternalnonsynonymous SNVNM_015088
NM_001162501
NM_001024843
c.A2818T
c.A2977T
c.A736T
p.M940L
p.M993L
p.M246L
18.341.556E-5Guo2018 T
TNRC6B     AU1308303chr22:
40705752-40705752
TCintronicDe novo--Yuen2017 G
TNRC6B     M23730chr22:
40711966-40711966
GA/GexonicMaternal--Guo2018 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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