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Results for "TNRC6B"

Variant Events: 85

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--Trost2022 G
Yuen2017 G
TNRC6B     12673.p1chr22:
40661586-40661590		AAGAGAexonicUnknown, De 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
Zhou2022 GE
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-Antaki2022 GE
Fu2022 E
Lim2017 E
Trost2022 G
TNRC6B     3-0713-000chr22:
40481916-40481916		CGintronicDe novo--Trost2022 G
TNRC6B     3-0459-000chr22:
40479253-40479253		ATintronicDe novo--Trost2022 G
TNRC6B     AU2355301chr22:
40456154-40456154		TTCintronicDe novo--Trost2022 G
TNRC6B     2-1433-003chr22:
40655553-40655553		AGintronicDe novo--Trost2022 G
TNRC6B     5-0002-003chr22:
40586129-40586129		AGintronicDe novo--Trost2022 G
TNRC6B     14163.p1chr22:
40662713-40662713		CTexonicUnknown, De 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
Zhou2022 GE
TNRC6B     MSSNG00116-003chr22:
40561697-40561697		GAintronicDe novo--Trost2022 G
TNRC6B     MSSNG00355-003chr22:
40537176-40537176		TGintronicDe novo--Trost2022 G
TNRC6B     1-0450-003chr22:
40454117-40454117		AGintronicDe novo--Trost2022 G
Yuen2017 G
TNRC6B     ACGC_M30985chr22:
40711475-40711476		AGAexonicDe novoframeshift deletionNM_015088
NM_001162501
NM_001024843		c.4538delG
c.4868delG
c.2456delG		p.R1513fs
p.R1623fs
p.R819fs		--Wang2020 T
TNRC6B     SP0146811chr22:
40677294-40677294		GTsplicingDe novosplicing19.98-Trost2022 G
Zhou2022 GE
TNRC6B     MSSNG00123-003chr22:
40534997-40534997		AGintronicDe novo--Trost2022 G
TNRC6B     1-0649-003chr22:
40530829-40530829		TAintronicDe novo--Trost2022 G
TNRC6B     7-0354-003chr22:
40504227-40504227		CTintronicDe novo--Trost2022 G
TNRC6B     SP0187780chr22:
40718890-40718890		ACexonicDe novononsynonymous SNVNM_015088
NM_001162501
NM_001024843		c.A4817C
c.A5147C
c.A2735C		p.E1606A
p.E1716A
p.E912A		18.91-Trost2022 G
Zhou2022 GE
TNRC6B     SJD_3.3chr22:
40489133-40489136		TAAGTintronicDe novo--Trost2022 G
TNRC6B     2-0503-003chr22:
40714322-40714322		CTintronicDe novo--Trost2022 G
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
TNRC6B     AU2109301chr22:
40570230-40570230		CTintronicDe novo--Trost2022 G
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
TNRC6B     REACH000073chr22:
40702400-40702400		CCTintronicDe novo--Trost2022 G
TNRC6B     3-0419-000chr22:
40692789-40692789		GAintronicDe novo--Trost2022 G
TNRC6B     SP0230384chr22:
40658128-40658128		CTexonicDe novosynonymous SNVNM_001162501
NM_015088
NM_001024843		c.C408T
c.C408T
c.C516T		p.N136N
p.N136N
p.N172N		-3.33E-5Trost2022 G
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-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
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
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--Trost2022 G
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
TNRC6B     SF0011919.p1chr22:
40662909-40662909		GAexonicnonsynonymous SNVNM_001162501
NM_015088		c.G2675A
c.G2675A		p.G892D
p.G892D		28.0-Wang2020 T
TNRC6B     ITAN_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
TNRC6B     SP0085082chr22:
40717266-40717266		AGintronicDe novo--Fu2022 E
TNRC6B     SP0011919chr22:
40662909-40662909		GAexonicDe novononsynonymous SNVNM_001162501
NM_015088		c.G2675A
c.G2675A		p.G892D
p.G892D		28.0-Fu2022 E
Trost2022 G
Zhou2022 GE
TNRC6B     AGRE_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
TNRC6B     AGRE_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
TNRC6B     AGRE_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
TNRC6B     TASC_217-14007-160chr22:
40662815-40662815		GAexonicUnknownnonsynonymous SNVNM_001162501
NM_015088		c.G2581A
c.G2581A		p.G861R
p.G861R		31.03.339E-5Wang2020 T
TNRC6B     Leuven2_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
TNRC6B     ACGC_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-6Wang2020 T
TNRC6B     ACGC_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
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
Trost2022 G
Zhou2022 GE
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
TNRC6B     12449.p1chr22:
40560200-40560200		GAintronicDe novo--Turner2016 G
TNRC6B     12680.p1chr22:
40664896-40664896		GAintronicDe novo--Turner2016 G
TNRC6B     TASC_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-Wang2020 T
TNRC6B     Leuven_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-6Wang2020 T
TNRC6B     AU060803chr22:
40694661-40694661		TCintronicDe novo--Trost2022 G
Yuen2017 G
TNRC6B     3B334chr22:
40666138-40666138		GTexonicDe novononsynonymous SNVNM_001162501
NM_001024843		c.G2819T
c.G578T		p.S940I
p.S193I		20.9-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
TNRC6B     SAGE_182.03chr22:
40552117-40552117		AGsplicingUnknownsplicing20.53.221E-5Wang2020 T
TNRC6B     Leuven2_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
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
TNRC6B     ACGC_GX0159.p1chr22:
40662113-40662113		CTexonicDe novostopgainNM_001162501
NM_015088		c.C1879T
c.C1879T		p.Q627X
p.Q627X		39.0-Wang2020 T
TNRC6B     AGRE_AU2689306chr22:
40669452-40669452		TTGexonicDe novoframeshift insertionNM_015088
NM_001162501
NM_001024843		c.2831dupG
c.2990dupG
c.749dupG		p.W944fs
p.W997fs
p.W250fs		--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     AU2689306chr22:
40669453-40669459		GGGGGGAGGGGGGGAexonicDe novoframeshift insertionNM_015088
NM_001162501
NM_001024843		c.2831dupG
c.2990dupG
c.749dupG		p.W944fs
p.W997fs
p.W250fs		--Stessman2017 T
Stessman2017 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     GX0531.p1chr22:
40677193-40677193		CAexonicMaternalnonsynonymous SNVNM_001162501c.C3482Ap.S1161Y17.47-Guo2018 T
TNRC6B     1-0073-003chr22:
40575450-40575450		GAintronicDe novo--Trost2022 G
Yuen2017 G
TNRC6B     M30377chr22:
40660977-40660977		CTexonicMaternalnonsynonymous SNVNM_001162501
NM_015088		c.C743T
c.C743T		p.A248V
p.A248V		5.394-Guo2018 T
TNRC6B     SSC05396chr22:
40661586-40661590		AAGAGAexonicDe novoframeshift deletionNM_001162501
NM_015088		c.1353_1356del
c.1353_1356del		p.K451fs
p.K451fs		--Antaki2022 GE
Fu2022 E
Trost2022 G
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--Trost2022 G
Yuen2017 G
TNRC6B     M23730chr22:
40711966-40711966		GA/GexonicMaternal--Guo2018 T
Source Variant Information

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Source:

Paper alias:

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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
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