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Results for "DEAF1"

Variant Events: 36

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
DEAF1     SP0006987chr11:
686922-686922		GAexonicDe novononsynonymous SNVNM_021008c.C740Tp.A247V31.0-Fu2022 E
Trost2022 G
Zhou2022 GE
DEAF1     SP0116249chr11:
694967-694985		CGCCGCCACAGCGGCCGCGCexonicnonframeshift deletionNM_001293634
NM_021008		c.63_80del
c.63_80del		p.21_27del
p.21_27del		--Zhou2022 GE
DEAF1     11563_p1chr11:
679719-679719		CTexonicDe novosynonymous SNVNM_001293634
NM_021008		c.G828A
c.G1095A		p.P276P
p.P365P		--Fu2022 E
DEAF1     SP0139210chr11:
687941-687941		CTexonicDe novononsynonymous SNVNM_001293634
NM_021008		c.G634A
c.G634A		p.G212S
p.G212S		34.0-Fu2022 E
Trost2022 G
Zhou2022 GE
DEAF1     Chen2021:4chr11:
686992-686992		GAexonicDe novononsynonymous SNVNM_021008c.C670Tp.R224W16.45-Chen2021 GET
DEAF1     140596chr11:
687955-687955		CTexonicDe novononsynonymous SNVNM_001293634
NM_021008		c.G620A
c.G620A		p.C207Y
p.C207Y		25.7-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
DEAF1     A1328Bchr11:
684943-684943		GTexonicDe novononsynonymous SNVNM_001293634
NM_021008		c.C685A
c.C825A		p.R229S
p.H275Q		17.19-Fu2022 E
DEAF1     GEA488chr11:
686992-686992		GAexonicDe novononsynonymous SNVNM_021008c.C670Tp.R224W16.45-Fu2022 E
DEAF1     3-0345-001chr11:
681257-681257		GAintronicDe novo--Trost2022 G
DEAF1     MSSNG00363-003chr11:
691231-691231		GAintronicDe novo--Trost2022 G
DEAF1     7-0351-003chr11:
672042-672042		GAintronicDe novo--Trost2022 G
DEAF1     F10023-1chr11:
686950-686950		TGexonicDe novononsynonymous SNVNM_021008c.A712Cp.T238P16.08-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
DEAF1     Chen2021:5chr11:
686992-686992		GAexonicDe novononsynonymous SNVNM_021008c.C670Tp.R224W16.45-Chen2021 GET
DEAF1     SP0006987chr11:
680904-680904		GCintronicDe novo--Trost2022 G
DEAF1     Wang2023:126chr11:
686904-686904		TAexonicDe novononsynonymous SNVNM_021008c.A758Tp.K253I29.0-Wang2023 E
DEAF1     AU4286302chr11:
647806-647806		AGintronicDe novo--Trost2022 G
DEAF1     MSSNG00343-003chr11:
660941-660941		CTintronicDe novo--Trost2022 G
DEAF1     Husson2020:30chr11:
686991-686991		CTexonicnonsynonymous SNVNM_021008c.G671Ap.R224Q18.37-Husson2020 E
DEAF1     ASDFI_979chr11:
687917-687917		CTexonicDe novononsynonymous SNVNM_001293634
NM_021008		c.G658A
c.G658A		p.G220S
p.G220S		33.08.264E-6DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
DEAF1     AU086Achr11:
687919-687919		AGexonicDe novononsynonymous SNVNM_001293634
NM_021008		c.T656C
c.T656C		p.L219P
p.L219P		21.0-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
DEAF1     09C82675chr11:
688377-688377		GAexonicDe novosynonymous SNVNM_001293634
NM_021008		c.C471T
c.C471T		p.I157I
p.I157I		--DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
DEAF1     2-1508-004chr11:
677912-677912		GAintronicDe novo--Yuen2017 G
DEAF1     561320chr11:
686925-686925		CGexonicDe novononsynonymous SNVNM_021008c.G737Cp.R246T23.3-Chen2017a T
DEAF1     11563.p1chr11:
679719-679719		CTexonicDe novosynonymous SNVNM_001293634
NM_021008		c.G828A
c.G1095A		p.P276P
p.P365P		--Iossifov2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE
DEAF1     M2647chr11:
686962-686962		ATexonicDe novononsynonymous SNVNM_021008c.T700Ap.W234R17.98-Chen2017a T
DEAF1     538820chr11:
681047-681050		TCTTTexonicDe novononframeshift deletionNM_021008c.910_912delp.304_304del--Chen2017a T
DEAF1     563832chr11:
686871-686871		TGexonicDe novononsynonymous SNVNM_021008c.A791Cp.Q264P17.12-Chen2017a T
DEAF1     80001100871chr11:
687927-687927		CAexonicDe novononsynonymous SNVNM_001293634
NM_021008		c.G648T
c.G648T		p.K216N
p.K216N		19.33-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
DEAF1     597158chr11:
687941-687941		CTexonicDe novononsynonymous SNVNM_001293634
NM_021008		c.G634A
c.G634A		p.G212S
p.G212S		34.0-Chen2017a T
DEAF1     Chen2021:54chr11:
687967-687967		AGexonicDe novononsynonymous SNVNM_001293634
NM_021008		c.T608C
c.T608C		p.L203P
p.L203P		24.3-Chen2021 GET
DEAF1     Chen2021:55chr11:
684943-684943		GCexonicDe novononsynonymous SNVNM_001293634
NM_021008		c.C685G
c.C825G		p.R229G
p.H275Q		16.96-Chen2021 GET
DEAF1     SP0132364chr11:
679798-679798		CTexonicnonsynonymous SNVNM_001293634
NM_021008		c.G749A
c.G1016A		p.G250E
p.G339E		15.17-Zhou2022 GE
DEAF1     Hu2022:15chr11:
687941-687941		CTexonicMaternalnonsynonymous SNVNM_001293634
NM_021008		c.G634A
c.G634A		p.G212S
p.G212S		34.0-Hu2022 T
DEAF1     SP0341078chr11:
687978-687978		GCexonicstopgainNM_001293634
NM_021008		c.C597G
c.C597G		p.Y199X
p.Y199X		40.0-Zhou2022 GE
DEAF1     AU3124302chr11:
686881-686881		GAexonicPaternalstopgainNM_021008c.C781Tp.R261X36.08.27E-6Cirnigliaro2023 G
DEAF1     12795.p1chr11:
682518-682518		ATintronicDe novo--Turner2016 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
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