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Results for "TCF12"

Variant Events: 38

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
TCF12     SF0083863.p1chr15:
57555429-57555430		TCTexonicframeshift deletionNM_001306220
NM_207040
NM_001306219
NM_003205
NM_207038
NM_207036
NM_207037		c.923delC
c.1121delC
c.1193delC
c.1631delC
c.1631delC
c.1703delC
c.1703delC		p.S308fs
p.S374fs
p.S398fs
p.S544fs
p.S544fs
p.S568fs
p.S568fs		--Wang2020 T
TCF12     AU2495301chr15:
57355310-57355310		CGintronicDe novo--Yuen2017 G
TCF12     AGRE_07C65224chr15:
57458629-57458630		CTCexonicDe novoframeshift deletionNM_003205
NM_207036
NM_207037
NM_207038		c.356delT
c.356delT
c.356delT
c.356delT		p.L119fs
p.L119fs
p.L119fs
p.L119fs		--Wang2020 T
TCF12     Leuven_393223chr15:
57524494-57524495		ACAexonicDe novoframeshift deletionNM_001306219
NM_207040
NM_003205
NM_207036
NM_207037
NM_207038		c.182delC
c.182delC
c.692delC
c.692delC
c.692delC
c.692delC		p.T61fs
p.T61fs
p.T231fs
p.T231fs
p.T231fs
p.T231fs		--Wang2020 T
TCF12     ACGC_M23597chr15:
57545653-57545653		GAexonicUnknownnonsynonymous SNVNM_001306220
NM_207040
NM_001306219
NM_003205
NM_207038
NM_207036
NM_207037		c.G674A
c.G872A
c.G944A
c.G1382A
c.G1382A
c.G1454A
c.G1454A		p.R225Q
p.R291Q
p.R315Q
p.R461Q
p.R461Q
p.R485Q
p.R485Q		22.31.0E-4Wang2020 T
TCF12     AGRE_03C16229chr15:
57565359-57565359		GAexonicDe novononsynonymous SNVNM_001306220
NM_207040
NM_001306219
NM_003205
NM_207038
NM_207036
NM_207037		c.G1097A
c.G1295A
c.G1367A
c.G1805A
c.G1805A
c.G1877A
c.G1877A		p.R366Q
p.R432Q
p.R456Q
p.R602Q
p.R602Q
p.R626Q
p.R626Q		36.0-Wang2020 T
TCF12     AGRE_03C14347chr15:
57565359-57565359		GAexonicDe novononsynonymous SNVNM_001306220
NM_207040
NM_001306219
NM_003205
NM_207038
NM_207036
NM_207037		c.G1097A
c.G1295A
c.G1367A
c.G1805A
c.G1805A
c.G1877A
c.G1877A		p.R366Q
p.R432Q
p.R456Q
p.R602Q
p.R602Q
p.R626Q
p.R626Q		36.0-Wang2020 T
TCF12     1-0507-003chr15:
57355956-57355957		GAGexonicDe novoframeshift deletionNM_003205
NM_207036
NM_207037
NM_207038		c.158delA
c.158delA
c.158delA
c.158delA		p.E53fs
p.E53fs
p.E53fs
p.E53fs		--Wang2020 T
Yuen2016 G
TCF12     3-0459-000chr15:
57535740-57535740		CCGexonicMaternalframeshift insertionNM_001306220
NM_001306219
NM_207040
NM_003205
NM_207036
NM_207037
NM_207038		c.398_399insG
c.596_597insG
c.596_597insG
c.1106_1107insG
c.1106_1107insG
c.1106_1107insG
c.1106_1107insG		p.P133fs
p.P199fs
p.P199fs
p.P369fs
p.P369fs
p.P369fs
p.P369fs		--Tammimies2015 E
TCF12     AU3874302chr15:
57245642-57245642		TCintronicDe novo--Yuen2017 G
TCF12     SP0083863chr15:
57555429-57555430		TCTexonicDe novoframeshift deletionNM_001306220
NM_207040
NM_001306219
NM_003205
NM_207038
NM_207036
NM_207037		c.923delC
c.1121delC
c.1193delC
c.1631delC
c.1631delC
c.1703delC
c.1703delC		p.S308fs
p.S374fs
p.S398fs
p.S544fs
p.S544fs
p.S568fs
p.S568fs		--Fu2022 E
TCF12     Leuven_246792chr15:
57526288-57526288		GCexonicUnknownnonsynonymous SNVNM_001306220
NM_001306219
NM_207040
NM_003205
NM_207036
NM_207037
NM_207038		c.G310C
c.G508C
c.G508C
c.G1018C
c.G1018C
c.G1018C
c.G1018C		p.G104R
p.G170R
p.G170R
p.G340R
p.G340R
p.G340R
p.G340R		23.0-Wang2020 T
TCF12     1-0203-004chr15:
57313956-57313956		ATintronicDe novo--Yuen2017 G
TCF12     547669682924-Cchr15:
57525014-57525015		CTCexonicDe novoframeshift deletionNM_001306220
NM_001306219
NM_207040
NM_003205
NM_207036
NM_207037
NM_207038		c.223delT
c.421delT
c.421delT
c.931delT
c.931delT
c.931delT
c.931delT		p.S75fs
p.S141fs
p.S141fs
p.S311fs
p.S311fs
p.S311fs
p.S311fs		--Fu2022 E
TCF12     Leuven_246793chr15:
57526288-57526288		GCexonicUnknownnonsynonymous SNVNM_001306220
NM_001306219
NM_207040
NM_003205
NM_207036
NM_207037
NM_207038		c.G310C
c.G508C
c.G508C
c.G1018C
c.G1018C
c.G1018C
c.G1018C		p.G104R
p.G170R
p.G170R
p.G340R
p.G340R
p.G340R
p.G340R		23.0-Wang2020 T
TCF12     AU1848302chr15:
57543265-57543265		AGintronicDe novo--Yuen2017 G
TCF12     2-0225-004chr15:
57500254-57500254		CTintronicDe novo--Yuen2017 G
TCF12     Leuven2_84254374chr15:
57544617-57544617		AGsplicingMaternalsplicing18.31-Wang2020 T
TCF12     TASC_217-14129-2250chr15:
57535733-57535733		CTexonicMaternalnonsynonymous SNVNM_001306220
NM_001306219
NM_207040
NM_003205
NM_207036
NM_207037
NM_207038		c.C391T
c.C589T
c.C589T
c.C1099T
c.C1099T
c.C1099T
c.C1099T		p.P131S
p.P197S
p.P197S
p.P367S
p.P367S
p.P367S
p.P367S		33.0-Wang2020 T
TCF12     2-1116-003chr15:
57263419-57263419		CGintronicDe novo--Yuen2016 G
Yuen2017 G
TCF12     1-0052-003chr15:
57567588-57567588		TTGTGTGTGintronicDe novo--Yuen2017 G
TCF12     ACGC_HEN0180.p1chr15:
57364892-57364892		CTintronicPaternal37.0-Wang2020 T
TCF12     1-0382-003chr15:
57574132-57574132		ACintronicDe novo--Yuen2017 G
TCF12     AGRE_03C23150chr15:
57565290-57565290		GAexonicPaternalnonsynonymous SNVNM_001306220
NM_207040
NM_001306219
NM_003205
NM_207038
NM_207036
NM_207037		c.G1028A
c.G1226A
c.G1298A
c.G1736A
c.G1736A
c.G1808A
c.G1808A		p.R343Q
p.R409Q
p.R433Q
p.R579Q
p.R579Q
p.R603Q
p.R603Q		36.0-Wang2020 T
TCF12     1-0382-003chr15:
57489241-57489241		TCintronicDe novo--Yuen2017 G
TCF12     AGRE_03C23149chr15:
57565290-57565290		GAexonicPaternalnonsynonymous SNVNM_001306220
NM_207040
NM_001306219
NM_003205
NM_207038
NM_207036
NM_207037		c.G1028A
c.G1226A
c.G1298A
c.G1736A
c.G1736A
c.G1808A
c.G1808A		p.R343Q
p.R409Q
p.R433Q
p.R579Q
p.R579Q
p.R603Q
p.R603Q		36.0-Wang2020 T
TCF12     AU3997302chr15:
57580727-57580727		TAUTR3De novo--Yuen2017 G
TCF12     1-0541-003chr15:
57565196-57565196		CTintronicDe novo--Yuen2017 G
TCF12     AU4183301chr15:
57512943-57512943		GAintronicDe novo--Yuen2017 G
TCF12     11122.p1chr15:
57526214-57526214		TAintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
TCF12     AU3760302chr15:
57448713-57448713		TCintronicDe novo--Yuen2017 G
TCF12     AU048206chr15:
57461916-57461916		TCintronicDe novo--Yuen2017 G
TCF12     7-0135-003chr15:
57307373-57307373		CTintronicDe novo--Yuen2017 G
TCF12     AU4235302chr15:
57279976-57279976		TCintronicDe novo--Yuen2017 G
TCF12     ACGC_JS0068.p1chr15:
57523386-57523386		CTexonicUnknownnonsynonymous SNVNM_001306219
NM_207040
NM_003205
NM_207036
NM_207037
NM_207038		c.C106T
c.C106T
c.C616T
c.C616T
c.C616T
c.C616T		p.R36C
p.R36C
p.R206C
p.R206C
p.R206C
p.R206C		22.71.648E-5Wang2020 T
TCF12     2-1511-003chr15:
57300159-57300190		GTCTCTCTCTCTCTCTCGCTCTCTCTCTCTCTGTCTCTCTCTCTCTCGCTCTCTCTCTCTCTintronicDe novo--Yuen2017 G
TCF12     2-1579-003chr15:
57240081-57240081		ATintronicDe novo--Yuen2017 G
TCF12     Leuven_197176chr15:
57523386-57523386		CTexonicUnknownnonsynonymous SNVNM_001306219
NM_207040
NM_003205
NM_207036
NM_207037
NM_207038		c.C106T
c.C106T
c.C616T
c.C616T
c.C616T
c.C616T		p.R36C
p.R36C
p.R206C
p.R206C
p.R206C
p.R206C		22.71.648E-5Wang2020 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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